Comprehensive Epilepsy and Seizure Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
16005 AASS 81479,81479 Order Options and Pricing
ABAT 81479,81479
ABCA2 81479,81479
ABCB7 81479,81479
ABCC8 81407,81479
ABCC9 81479,81479
ABCD1 81405,81479
ABHD16A 81479,81479
ACAD9 81479,81479
ACADM 81479,81479
ACADS 81405,81479
ACADSB 81479,81479
ACAT1 81479,81479
ACO2 81479,81479
ACOX1 81479,81479
ACP5 81479,81479
ACSF3 81479,81479
ACSL4 81479,81479
ACTB 81479,81479
ACTG1 81479,81479
ACTL6B 81479,81479
ACVR1 81479,81479
ACY1 81479,81479
ADAM22 81479,81479
ADAR 81479,81479
ADARB1 81479,81479
ADAT3 81479,81479
ADD3 81479,81479
ADGRG1 81479,81479
ADGRV1 81479,81479
ADK 81479,81479
ADNP 81479,81479
ADPRS 81479,81479
ADRA2B 81479,81479
ADSL 81479,81479
AFF2 81479,81479
AFF3 81479,81479
AFG3L2 81479,81479
AGA 81479,81479
AGK 81479,81479
AGTR2 81479,81479
AHCY 81479,81479
AHDC1 81479,81479
AHI1 81407,81479
AIFM1 81479,81479
AIMP1 81479,81479
AIMP2 81479,81479
AKT1 81479,81479
AKT2 81479,81479
AKT3 81479,81479
ALAD 81479,81479
ALDH18A1 81479,81479
ALDH3A2 81479,81479
ALDH4A1 81479,81479
ALDH5A1 81479,81479
ALDH7A1 81406,81479
ALDOA 81479,81479
ALDOB 81479,81479
ALG1 81479,81479
ALG11 81479,81479
ALG12 81479,81479
ALG13 81479,81479
ALG14 81479,81479
ALG2 81479,81479
ALG3 81479,81479
ALG6 81479,81479
ALG8 81479,81479
ALG9 81479,81479
ALKBH8 81479,81479
ALMS1 81479,81479
ALPL 81479,81479
ALX4 81479,81479
AMACR 81479,81479
AMER1 81479,81479
AMPD2 81479,81479
AMT 81479,81479
ANK2 81479,81479
ANK3 81479,81479
ANKH 81479,81479
ANKLE2 81479,81479
ANKRD11 81479,81479
ANKRD17 81479,81479
ANO10 81479,81479
ANO3 81479,81479
ANTXR1 81479,81479
AP1G1 81479,81479
AP1S2 81479,81479
AP2M1 81479,81479
AP2S1 81479,81479
AP3B2 81479,81479
AP3D1 81479,81479
AP4B1 81479,81479
AP4E1 81479,81479
AP4M1 81479,81479
AP4S1 81479,81479
APC2 81479,81479
APTX 81405,81479
AQP2 81404,81479
ARFGEF2 81479,81479
ARG1 81479,81479
ARHGAP31 81479,81479
ARHGEF15 81479,81479
ARHGEF6 81479,81479
ARHGEF9 81479,81479
ARID1A 81479,81479
ARID1B 81479,81479
ARID2 81479,81479
ARL13B 81479,81479
ARMC9 81479,81479
ARNT2 81479,81479
ARSA 81405,81479
ARV1 81479,81479
ARX 81404,81403
ASAH1 81479,81479
ASCL1 81479,81479
ASH1L 81479,81479
ASL 81479,81479
ASNS 81479,81479
ASPA 81479,81479
ASPM 81407,81479
ASS1 81406,81479
ASTN2 81479,81479
ASXL1 81175,81479
ASXL2 81479,81479
ASXL3 81479,81479
ATAD1 81479,81479
ATIC 81479,81479
ATN1 81479,81479
ATP13A2 81479,81479
ATP1A1 81479,81479
ATP1A2 81406,81479
ATP1A3 81479,81479
ATP2A2 81479,81479
ATP2B3 81479,81479
ATP5F1A 81479,81479
ATP5F1E 81479,81479
ATP6AP1 81479,81479
ATP6AP2 81479,81479
ATP6V0A2 81479,81479
ATP6V1A 81479,81479
ATP6V1B2 81479,81479
ATP7A 81479,81479
ATP8A2 81479,81479
ATPAF2 81479,81479
ATR 81479,81479
ATRX 81479,81479
AUH 81479,81479
AUTS2 81479,81479
AVPR2 81404,81479
B3GALNT2 81479,81479
B4GALNT1 81479,81479
B4GALT1 81479,81479
B4GAT1 81479,81479
B9D1 81479,81479
BAZ2B 81479,81479
BCAP31 81479,81479
BCAS3 81479,81479
BCKDHA 81405,81479
BCKDHB 81406,81479
BCKDK 81479,81479
BCL11A 81479,81479
BCL11B 81479,81479
BCOR 81479,81479
BCORL1 81479,81479
BCS1L 81405,81479
BDNF 81479,81479
BMP4 81479,81479
BOLA3 81479,81479
BPNT2 81479,81479
BPTF 81479,81479
BRAF 81406,81479
BRAT1 81479,81479
BRPF1 81479,81479
BRSK2 81479,81479
BRWD3 81479,81479
BSCL2 81406,81479
BSN 81479,81479
BTD 81404,81479
BUB1B 81479,81479
C12orf57 81479,81479
C2CD3 81479,81479
C2orf69 81479,81479
CA8 81479,81479
CACNA1A 81185,81479
CACNA1B 81479,81479
CACNA1C 81479,81479
CACNA1D 81479,81479
CACNA1E 81479,81479
CACNA1G 81479,81479
CACNA1H 81479,81479
CACNA1I 81479,81479
CACNA2D1 81479,81479
CACNA2D2 81479,81479
CACNB4 81479,81479
CAD 81479,81479
CAMK2A 81479,81479
CAMK2B 81479,81479
CAMTA1 81479,81479
CAPN10 81479,81479
CARS2 81479,81479
CASK 81479,81479
CASR 81405,81479
CAV1 81479,81479
CBL 81479,81479
CBS 81406,81479
CC2D1A 81479,81479
CC2D2A 81479,81479
CCBE1 81479,81479
CCDC115 81479,81479
CCDC88A 81479,81479
CCDC88C 81479,81479
CCM2 81479,81479
CCND2 81479,81479
CD96 81479,81479
CDC42 81479,81479
CDH11 81479,81479
CDH15 81479,81479
CDH2 81479,81479
CDK10 81479,81479
CDK13 81479,81479
CDK19 81479,81479
CDK5 81479,81479
CDK5RAP2 81479,81479
CDK6 81479,81479
CDK8 81479,81479
CDKL5 81406,81405
CDKN1C 81479,81479
CDON 81479,81479
CELF4 81479,81479
CENPE 81479,81479
CENPJ 81479,81479
CEP104 81479,81479
CEP120 81479,81479
CEP135 81479,81479
CEP152 81479,81479
CEP164 81479,81479
CEP290 81408,81479
CEP41 81479,81479
CEP57 81479,81479
CEP63 81479,81479
CEP85L 81479,81479
CERS1 81479,81479
CERT1 81479,81479
CHAMP1 81479,81479
CHAT 81479,81479
CHD1 81479,81479
CHD1L 81479,81479
CHD2 81479,81479
CHD4 81479,81479
CHD7 81407,81479
CHD8 81479,81479
CHKB 81479,81479
CHL1 81479,81479
CHRNA2 81479,81479
CHRNA4 81405,81479
CHRNA7 81479,81479
CHRNB2 81405,81479
CIC 81479,81479
CILK1 81479,81479
CIT 81479,81479
CKAP2L 81479,81479
CLCF1 81479,81479
CLCN2 81479,81479
CLCN3 81479,81479
CLCN4 81479,81479
CLDN16 81479,81479
CLIP1 81479,81479
CLN3 81479,81479
CLN5 81479,81479
CLN6 81479,81479
CLN8 81479,81479
CLP1 81479,81479
CLPB 81479,81479
CLPP 81479,81479
CLTC 81479,81479
CNKSR2 81479,81479
CNNM2 81479,81479
CNOT1 81479,81479
CNOT3 81479,81479
CNPY3 81479,81479
CNTN2 81479,81479
CNTN4 81479,81479
CNTNAP1 81479,81479
CNTNAP2 81406,81479
COA3 81479,81479
COA5 81479,81479
COA7 81479,81479
COA8 81479,81479
COASY 81479,81479
COG1 81479,81479
COG4 81479,81479
COG5 81479,81479
COG6 81479,81479
COG7 81479,81479
COG8 81479,81479
COL18A1 81479,81479
COL4A1 81408,81479
COL4A2 81479,81479
COLGALT1 81479,81479
COMT 81479,81479
COQ2 81479,81479
COQ4 81479,81479
COQ5 81479,81479
COQ6 81479,81479
COQ8A 81479,81479
COQ9 81479,81479
COX10 81405,81479
COX14 81479,81479
COX15 81405,81479
COX20 81479,81479
COX6B1 81404,81479
COX7B 81479,81479
CPA6 81479,81479
CPLANE1 81479,81479
CPLX1 81479,81479
CPS1 81479,81479
CPT1A 81479,81479
CPT2 81404,81479
CRADD 81479,81479
CRB2 81479,81479
CRBN 81479,81479
CREBBP 81407,81406
CRH 81479,81479
CRIPT 81479,81479
CRLF1 81479,81479
CRPPA 81405,81479
CSDE1 81479,81479
CSF1R 81479,81479
CSMD1 81479,81479
CSNK2A1 81479,81479
CSNK2B 81479,81479
CSPP1 81479,81479
CSTB 81189,81479
CTC1 81479,81479
CTCF 81479,81479
CTNNA2 81479,81479
CTNNB1 81479,81479
CTNND2 81479,81479
CTSA 81479,81479
CTSD 81479,81479
CTSF 81479,81479
CTU2 81479,81479
CUL3 81479,81479
CUL4B 81479,81479
CUX1 81479,81479
CUX2 81479,81479
CYB5R3 81479,81479
CYC1 81479,81479
CYFIP2 81479,81479
CYP27A1 81479,81479
CYP27B1 81479,81479
D2HGDH 81479,81479
DAG1 81479,81479
DARS2 81479,81479
DBH 81479,81479
DBT 81406,81405
DCC 81479,81479
DCHS1 81479,81479
DCX 81405,81479
DDC 81479,81479
DDOST 81479,81479
DDX3X 81479,81479
DEAF1 81479,81479
DEGS1 81479,81479
DENND5A 81479,81479
DEPDC5 81479,81479
DGUOK 81405,81479
DHCR24 81479,81479
DHCR7 81405,81479
DHDDS 81479,81479
DHFR 81479,81479
DHPS 81479,81479
DHTKD1 81479,81479
DHX30 81479,81479
DIAPH1 81479,81479
DIP2B 81479,81479
DIP2C 81479,81479
DIS3L2 81479,81479
DISP1 81479,81479
DLAT 81406,81479
DLD 81406,81479
DLG1 81479,81479
DLG2 81479,81479
DLG3 81479,81479
DLG4 81479,81479
DLGAP2 81479,81479
DLL1 81479,81479
DLL4 81479,81479
DMBX1 81479,81479
DMD 81408,81161
DMXL2 81479,81479
DNA2 81479,81479
DNAJC12 81479,81479
DNAJC19 81479,81479
DNAJC5 81479,81479
DNAJC6 81479,81479
DNM1 81479,81479
DNM1L 81479,81479
DNMT3A 81479,81479
DOCK6 81479,81479
DOCK7 81479,81479
DOLK 81479,81479
DPAGT1 81479,81479
DPH1 81479,81479
DPM1 81479,81479
DPM2 81479,81479
DPYD 81479,81479
DPYS 81479,81479
DSCAM 81479,81479
DYNC1H1 81479,81479
DYRK1A 81479,81479
EARS2 81479,81479
EBF3 81479,81479
EBP 81479,81479
ECHS1 81479,81479
ECM1 81479,81479
EDC3 81479,81479
EEF1A2 81479,81479
EFHC1 81479,81479
EFTUD2 81479,81479
EGF 81479,81479
EHHADH 81479,81479
EHMT1 81479,81479
EIF2AK2 81479,81479
EIF2AK3 81479,81479
EIF2B1 81479,81479
EIF2B2 81405,81479
EIF2B3 81406,81479
EIF2B4 81406,81479
EIF2B5 81406,81479
EIF2S3 81479,81479
EIF3F 81479,81479
ELAC2 81479,81479
ELMO2 81479,81479
ELOVL4 81479,81479
ELP4 81479,81479
EMC1 81479,81479
EMG1 81479,81479
EML1 81479,81479
EMX2 81479,81479
ENPP1 81479,81479
EOGT 81479,81479
EP300 81479,81479
EPB41L1 81479,81479
EPG5 81479,81479
EPM2A 81404,81479
ERCC1 81479,81479
ERCC2 81479,81479
ERCC3 81479,81479
ERCC4 81479,81479
ERCC5 81479,81479
ERCC6 81479,81479
ERCC8 81479,81479
ERF 81479,81479
ERLIN2 81479,81479
ERMARD 81479,81479
ESCO2 81479,81479
ETFA 81479,81479
ETFB 81479,81479
ETFDH 81479,81479
ETHE1 81479,81479
EXOC6B 81479,81479
EXOC7 81479,81479
EXOSC3 81479,81479
EXOSC8 81479,81479
EXT2 81479,81479
EXTL3 81479,81479
EZH2 81236,81479
FA2H 81479,81479
FAM111A 81479,81479
FAM126A 81479,81479
FAM50A 81479,81479
FAR1 81479,81479
FARS2 81479,81479
FARSB 81479,81479
FASN 81479,81479
FASTKD2 81406,81479
FAT4 81479,81479
FBP1 81479,81479
FBXL4 81479,81479
FBXO11 81479,81479
FBXO28 81479,81479
FBXO31 81479,81479
FDFT1 81479,81479
FDX2 81479,81479
FDXR 81479,81479
FGD1 81479,81479
FGF12 81479,81479
FGF13 81479,81479
FGF23 81404,81479
FGF8 81479,81479
FGFR1 81405,81479
FGFR2 81479,81479
FGFR3 81479,81479
FH 81479,81479
FIG4 81406,81479
FKRP 81404,81479
FKTN 81405,81479
FLNA 81479,81479
FLRT3 81479,81479
FLVCR1 81479,81479
FLVCR2 81479,81479
FMN2 81479,81479
FMR1 81243,81479
FOLR1 81479,81479
FOXG1 81404,81479
FOXH1 81479,81479
FOXP1 81479,81479
FOXRED1 81479,81479
FRMPD4 81479,81479
FRRS1L 81479,81479
FTL 81479,81479
FTO 81479,81479
FTSJ1 81406,81405
FUCA1 81479,81479
FUT8 81479,81479
FXYD2 81479,81479
G6PC1 81479,81479
GABBR2 81479,81479
GABRA1 81479,81479
GABRA2 81479,81479
GABRA3 81479,81479
GABRA5 81479,81479
GABRA6 81479,81479
GABRB1 81479,81479
GABRB2 81479,81479
GABRB3 81479,81479
GABRD 81479,81479
GABRG2 81405,81479
GABRG3 81479,81479
GAD1 81479,81479
GALC 81479,81479
GALNT2 81479,81479
GAMT 81479,81479
GAS1 81479,81479
GATA3 81479,81479
GATA6 81479,81479
GATAD2B 81479,81479
GATM 81479,81479
GBA 81479,81479
GCDH 81406,81479
GCH1 81405,81479
GCSH 81479,81479
GDI1 81479,81479
GFAP 81405,81479
GFER 81479,81479
GFM1 81479,81479
GFM2 81479,81479
GJA1 81479,81479
GJC2 81479,81479
GK 81479,81479
GLB1 81479,81479
GLDC 81479,81479
GLI2 81479,81479
GLI3 81479,81479
GLRA1 81479,81479
GLRA2 81479,81479
GLRB 81479,81479
GLS 81479,81479
GLUD1 81406,81479
GLUL 81479,81479
GLYCTK 81479,81479
GM2A 81479,81479
GMPPA 81479,81479
GMPPB 81479,81479
GNAI1 81479,81479
GNAO1 81479,81479
GNAQ 81479,81479
GNAS 81479,81479
GNB1 81479,81479
GNB5 81479,81479
GNE 81406,81479
GNPTAB 81479,81479
GNPTG 81479,81479
GNRH1 81479,81479
GNS 81479,81479
GOLGA2 81479,81479
GOSR2 81479,81479
GPAA1 81479,81479
GPC3 81479,81479
GPC4 81479,81479
GPHN 81479,81479
GPSM2 81479,81479
GPT2 81479,81479
GRIA2 81479,81479
GRIA3 81479,81479
GRIA4 81479,81479
GRIK2 81479,81479
GRIN1 81479,81479
GRIN2A 81479,81479
GRIN2B 81479,81479
GRIN2D 81479,81479
GRIP1 81479,81479
GRM1 81479,81479
GRM7 81479,81479
GRN 81406,81479
GSS 81479,81479
GTF2H5 81479,81479
GTF2IRD1 81479,81479
GTPBP2 81479,81479
GTPBP3 81479,81479
GUF1 81479,81479
GUSB 81479,81479
H3-3A 81479,81479
H3-3B 81479,81479
HACE1 81479,81479
HADH 81479,81479
HARS2 81479,81479
HAX1 81479,81479
HCCS 81479,81479
HCFC1 81479,81479
HCN1 81479,81479
HCN2 81479,81479
HCN4 81479,81479
HDAC4 81479,81479
HDAC8 81479,81479
HECW2 81479,81479
HEPACAM 81479,81479
HERC1 81479,81479
HERC2 81479,81479
HESX1 81479,81479
HEXA 81479,81479
HEXB 81479,81479
HGSNAT 81479,81479
HIBCH 81479,81479
HIVEP2 81479,81479
HLCS 81406,81479
HMGCL 81479,81479
HMGCS2 81479,81479
HNRNPH2 81479,81479
HNRNPK 81479,81479
HNRNPR 81479,81479
HNRNPU 81479,81479
HOXA1 81479,81479
HPD 81479,81479
HPDL 81479,81479
HPRT1 81479,81479
HRAS 81404,81479
HSD17B10 81479,81479
HSD17B4 81479,81479
HSPD1 81479,81479
HTRA1 81405,81479
HTRA2 81479,81479
HUWE1 81479,81479
IBA57 81479,81479
IDH2 81403,81479
IDS 81405,81479
IDUA 81406,81479
IER3IP1 81479,81479
IFIH1 81479,81479
IFT140 81479,81479
IKBKG 81479,81479
IL12B 81479,81479
IL1RAPL1 81479,81479
ILF2 81479,81479
INO80 81479,81479
INPP5E 81479,81479
INPP5K 81479,81479
INS 81404,81479
INSR 81479,81479
INTS6 81479,81479
IQSEC2 81479,81479
IRF2BPL 81479,81479
ITPA 81479,81479
ITPR1 81479,81479
IVD 81406,81479
JAM3 81479,81479
JMJD1C 81479,81479
KANK1 81479,81479
KANSL1 81479,81479
KARS1 81479,81479
KAT2B 81479,81479
KAT5 81479,81479
KAT6A 81479,81479
KAT6B 81479,81479
KAT8 81479,81479
KATNB1 81479,81479
KCNA1 81479,81479
KCNA2 81479,81479
KCNB1 81479,81479
KCNC1 81479,81479
KCNC3 81479,81479
KCND2 81479,81479
KCND3 81479,81479
KCNH1 81479,81479
KCNJ1 81404,81479
KCNJ10 81404,81479
KCNJ11 81403,81479
KCNJ2 81403,81479
KCNJ6 81479,81479
KCNMA1 81479,81479
KCNQ2 81406,81479
KCNQ3 81479,81479
KCNQ5 81479,81479
KCNT1 81479,81479
KCNT2 81479,81479
KCTD3 81479,81479
KCTD7 81479,81479
KDM2B 81479,81479
KDM3B 81479,81479
KDM4B 81479,81479
KDM5B 81479,81479
KDM5C 81407,81479
KDM6A 81479,81479
KDM6B 81479,81479
KIAA0586 81479,81479
KIF11 81479,81479
KIF1A 81479,81479
KIF2A 81479,81479
KIF4A 81479,81479
KIF5C 81479,81479
KIF7 81479,81479
KIFBP 81479,81479
KIRREL3 81479,81479
KISS1 81479,81479
KLHL15 81479,81479
KLHL7 81479,81479
KMT2C 81479,81479
KMT2D 81479,81479
KMT2E 81479,81479
KMT5B 81479,81479
KPNA7 81479,81479
KPTN 81479,81479
KRAS 81405,81479
KRIT1 81479,81479
L1CAM 81407,81479
L2HGDH 81479,81479
LAMA2 81408,81479
LAMB1 81479,81479
LAMC3 81479,81479
LARGE1 81479,81479
LARS1 81479,81479
LARS2 81479,81479
LAS1L 81479,81479
LBR 81479,81479
LEO1 81479,81479
LGI1 81479,81479
LGI4 81479,81479
LIAS 81479,81479
LIG4 81479,81479
LINGO1 81479,81479
LIPT1 81479,81479
LMAN2L 81479,81479
LMBRD1 81479,81479
LMNB1 81479,81479
LNPK 81479,81479
LONP1 81479,81479
LRP2 81479,81479
LRPPRC 81479,81479
LSS 81479,81479
LYRM7 81479,81479
LYST 81479,81479
LZTFL1 81479,81479
MACF1 81479,81479
MADD 81479,81479
MAF 81479,81479
MAGEL2 81479,81479
MAGI2 81479,81479
MAN1B1 81479,81479
MANBA 81479,81479
MAOA 81479,81479
MAP1B 81479,81479
MAP2K1 81406,81479
MAP2K2 81406,81479
MAP3K3 81479,81479
MAPK10 81479,81479
MAPK8IP3 81479,81479
MAPRE2 81479,81479
MARS2 81479,81479
MAST1 81479,81479
MAT1A 81479,81479
MATN4 81479,81479
MBD5 81479,81479
MBOAT7 81479,81479
MBTPS2 81479,81479
MCCC1 81406,81479
MCCC2 81406,81479
MCOLN1 81479,81479
MCPH1 81479,81479
MDH2 81479,81479
MECP2 81302,81304
MED12 81479,81479
MED12L 81479,81479
MED13 81479,81479
MED13L 81479,81479
MED17 81479,81479
MED23 81479,81479
MED25 81479,81479
MED27 81479,81479
MEF2C 81479,81479
MEGF10 81479,81479
MEIS2 81479,81479
METTL23 81479,81479
MFF 81479,81479
MFSD2A 81479,81479
MFSD8 81479,81479
MGAT2 81479,81479
MGME1 81479,81479
MGP 81479,81479
MID1 81479,81479
MID2 81479,81479
MIPEP 81479,81479
MKS1 81479,81479
MLC1 81479,81479
MLYCD 81479,81479
MMAA 81405,81479
MMAB 81405,81479
MMACHC 81404,81479
MMADHC 81479,81479
MMUT 81406,81479
MN1 81479,81479
MOCS1 81479,81479
MOCS2 81479,81479
MOGS 81479,81479
MORC2 81479,81479
MPC1 81479,81479
MPDU1 81479,81479
MPDZ 81479,81479
MPLKIP 81479,81479
MPV17 81405,81404
MRAP 81479,81479
MRPS22 81479,81479
MSL3 81479,81479
MSX2 81479,81479
MTFMT 81479,81479
MTHFR 81479,81479
MTO1 81479,81479
MTOR 81479,81479
MTPAP 81479,81479
MTR 81479,81479
MTRR 81479,81479
MVK 81479,81479
MYH3 81479,81479
MYO5A 81479,81479
MYT1L 81479,81479
NAA10 81479,81479
NAA15 81479,81479
NACC1 81479,81479
NADK2 81479,81479
NAGA 81479,81479
NAGLU 81479,81479
NAGS 81479,81479
NALCN 81479,81479
NANS 81479,81479
NAPB 81479,81479
NARS1 81479,81479
NARS2 81479,81479
NAT8L 81479,81479
NAXD 81479,81479
NAXE 81479,81479
NBEA 81479,81479
NCDN 81479,81479
NCKAP1 81479,81479
NCOR1 81479,81479
NDE1 81479,81479
NDN 81479,81479
NDP 81404,81403
NDST1 81479,81479
NDUFA1 81404,81479
NDUFA10 81479,81479
NDUFA11 81479,81479
NDUFA12 81479,81479
NDUFA2 81479,81479
NDUFA4 81479,81479
NDUFA9 81479,81479
NDUFAF1 81479,81479
NDUFAF2 81404,81479
NDUFAF3 81479,81479
NDUFAF4 81479,81479
NDUFAF5 81479,81479
NDUFAF6 81479,81479
NDUFAF8 81479,81479
NDUFB11 81479,81479
NDUFB3 81479,81479
NDUFB8 81479,81479
NDUFB9 81479,81479
NDUFS1 81406,81479
NDUFS2 81479,81479
NDUFS3 81479,81479
NDUFS4 81404,81479
NDUFS6 81479,81479
NDUFS7 81405,81479
NDUFS8 81405,81479
NDUFV1 81405,81479
NDUFV2 81479,81479
NECAP1 81479,81479
NEDD4L 81479,81479
NEU1 81479,81479
NEUROD2 81479,81479
NEXMIF 81479,81479
NF1 81408,81479
NFIA 81479,81479
NFIB 81479,81479
NFIX 81479,81479
NFU1 81479,81479
NGLY1 81479,81479
NHLRC1 81403,81479
NIN 81479,81479
NIPA1 81404,81479
NIPBL 81479,81479
NKX6-2 81479,81479
NLGN1 81479,81479
NLGN3 81405,81479
NLGN4X 81405,81404
NLRP3 81479,81479
NNT 81479,81479
NONO 81479,81479
NOTCH3 81406,81479
NOVA2 81479,81479
NPC1 81406,81479
NPC2 81404,81479
NPHP1 81406,81405
NPHP3 81479,81479
NPRL2 81479,81479
NPRL3 81479,81479
NR2F1 81479,81479
NR4A2 81479,81479
NRAS 81479,81479
NRROS 81479,81479
NRXN1 81479,81479
NRXN3 81479,81479
NSD1 81406,81405
NSDHL 81479,81479
NSUN2 81479,81479
NTNG1 81479,81479
NTNG2 81479,81479
NTRK2 81479,81479
NUBPL 81479,81479
NUP107 81479,81479
NUP188 81479,81479
NUS1 81479,81479
OCLN 81479,81479
OCRL 81479,81479
OFD1 81479,81479
OGDHL 81479,81479
OGT 81479,81479
OPA3 81479,81479
OPHN1 81479,81479
OSGEP 81479,81479
OTC 81405,81479
OTUD6B 81479,81479
OTX2 81479,81479
OXR1 81479,81479
P4HTM 81479,81479
PACS1 81479,81479
PACS2 81479,81479
PAFAH1B1 81406,81405
PAH 81406,81479
PAK1 81479,81479
PAK3 81479,81479
PANK2 81479,81479
PARS2 81479,81479
PAX6 81479,81479
PBX1 81479,81479
PC 81406,81479
PCCA 81406,81405
PCCB 81406,81479
PCDH12 81479,81479
PCDH19 81405,81479
PCK1 81479,81479
PCLO 81479,81479
PCNT 81479,81479
PCYT2 81479,81479
PDE4D 81479,81479
PDE6D 81479,81479
PDGFRB 81479,81479
PDHA1 81406,81405
PDHX 81406,81479
PDP1 81479,81479
PDSS1 81479,81479
PDSS2 81479,81479
PET100 81479,81479
PEX1 81479,81479
PEX10 81479,81479
PEX11B 81479,81479
PEX12 81479,81479
PEX13 81479,81479
PEX14 81479,81479
PEX16 81479,81479
PEX19 81479,81479
PEX2 81479,81479
PEX26 81479,81479
PEX3 81479,81479
PEX5 81479,81479
PEX6 81479,81479
PEX7 81479,81479
PGAP1 81479,81479
PGAP2 81479,81479
PGAP3 81479,81479
PGK1 81479,81479
PGM2L1 81479,81479
PHACTR1 81479,81479
PHC1 81479,81479
PHF21A 81479,81479
PHF3 81479,81479
PHF6 81479,81479
PHGDH 81479,81479
PI4KA 81479,81479
PIDD1 81479,81479
PIEZO2 81479,81479
PIGA 81479,81479
PIGB 81479,81479
PIGC 81479,81479
PIGG 81479,81479
PIGH 81479,81479
PIGK 81479,81479
PIGL 81479,81479
PIGM 81479,81479
PIGN 81479,81479
PIGO 81479,81479
PIGP 81479,81479
PIGQ 81479,81479
PIGS 81479,81479
PIGT 81479,81479
PIGU 81479,81479
PIGV 81479,81479
PIGW 81479,81479
PIGY 81479,81479
PIK3AP1 81479,81479
PIK3CA 81479,81479
PIK3R2 81479,81479
PLA2G6 81479,81479
PLAA 81479,81479
PLCB1 81479,81479
PLEKHG2 81479,81479
PLK4 81479,81479
PLP1 81405,81404
PLPBP 81479,81479
PMM2 81479,81479
PMPCA 81479,81479
PMPCB 81479,81479
PNKP 81479,81479
PNPLA8 81479,81479
PNPO 81479,81479
PNPT1 81479,81479
POGZ 81479,81479
POLA1 81479,81479
POLG 81406,81479
POLG2 81479,81479
POLR2A 81479,81479
POLR3A 81479,81479
POLR3B 81479,81479
POMGNT1 81406,81479
POMGNT2 81479,81479
POMK 81479,81479
POMT1 81406,81479
POMT2 81406,81479
POU1F1 81405,81479
POU3F3 81479,81479
PPA2 81479,81479
PPARG 81479,81479
PPM1D 81479,81479
PPM1K 81479,81479
PPP1R15B 81479,81479
PPP2CA 81479,81479
PPP2R1A 81479,81479
PPP2R5D 81479,81479
PPP3CA 81479,81479
PPT1 81479,81479
PQBP1 81405,81404
PREPL 81479,81479
PRF1 81479,81479
PRICKLE1 81479,81479
PRICKLE2 81479,81479
PRIMA1 81479,81479
PRKAR1A 81479,81479
PRMT7 81479,81479
PROP1 81404,81479
PRPS1 81479,81479
PRRT2 81479,81479
PRSS12 81479,81479
PRUNE1 81479,81479
PSAP 81479,81479
PSAT1 81479,81479
PSMD12 81479,81479
PSPH 81479,81479
PTCH1 81479,81479
PTCHD1 81479,81479
PTEN 81321,81323
PTPN11 81406,81479
PTPN23 81479,81479
PTPN4 81479,81479
PTRH2 81479,81479
PTS 81479,81479
PUF60 81479,81479
PUM1 81479,81479
PURA 81479,81479
PUS1 81479,81479
PUS3 81479,81479
PYCR2 81479,81479
QARS1 81479,81479
QDPR 81479,81479
QRICH1 81479,81479
RAB11A 81479,81479
RAB11B 81479,81479
RAB18 81479,81479
RAB27A 81479,81479
RAB39B 81479,81479
RAB3GAP1 81479,81479
RAB3GAP2 81479,81479
RAC1 81479,81479
RAD21 81479,81479
RAF1 81406,81479
RAI1 81405,81479
RALA 81479,81479
RALGAPA1 81479,81479
RALGAPB 81479,81479
RANBP2 81479,81479
RARS2 81479,81479
RBBP8 81479,81479
RBFOX1 81479,81479
RBFOX3 81479,81479
RBM10 81479,81479
RBM8A 81479,81479
RBPJ 81479,81479
RECQL4 81479,81479
REEP1 81405,81479
RELN 81479,81479
RERE 81479,81479
RFT1 81479,81479
RHOBTB2 81479,81479
RIT1 81479,81479
RMND1 81479,81479
RNASEH2A 81479,81479
RNASEH2B 81479,81479
RNASEH2C 81479,81479
RNASET2 81479,81479
RNF113A 81479,81479
RNF125 81479,81479
RNF13 81479,81479
RNF168 81479,81479
ROGDI 81479,81479
RORA 81479,81479
RORB 81479,81479
RPGRIP1L 81479,81479
RPIA 81479,81479
RPL10 81479,81479
RPS6KA3 81479,81479
RRM2B 81405,81479
RSRC1 81479,81479
RTN4IP1 81479,81479
RTTN 81479,81479
RXYLT1 81479,81479
RYR2 81408,81479
SACS 81479,81479
SAMHD1 81479,81479
SASS6 81479,81479
SATB1 81479,81479
SATB2 81479,81479
SC5D 81479,81479
SCAF4 81479,81479
SCARB2 81479,81479
SCN10A 81479,81479
SCN1A 81407,81479
SCN1B 81404,81479
SCN2A 81479,81479
SCN3A 81479,81479
SCN8A 81479,81479
SCO1 81405,81479
SCO2 81404,81479
SCYL2 81479,81479
SDCCAG8 81479,81479
SDHA 81479,81479
SDHAF1 81479,81479
SEC24D 81479,81479
SEMA6B 81479,81479
SEPSECS 81479,81479
SERAC1 81479,81479
SERPINI1 81479,81479
SET 81479,81479
SETBP1 81479,81479
SETD1A 81479,81479
SETD1B 81479,81479
SETD2 81479,81479
SETD5 81479,81479
SFXN4 81479,81479
SGCE 81406,81405
SGSH 81479,81479
SH2B1 81479,81479
SHANK1 81479,81479
SHANK3 81479,81479
SHH 81479,81479
SHROOM4 81479,81479
SIN3A 81479,81479
SIX3 81479,81479
SKI 81479,81479
SLC12A1 81407,81479
SLC12A3 81407,81479
SLC12A5 81479,81479
SLC12A6 81479,81479
SLC13A5 81479,81479
SLC16A1 81479,81479
SLC16A2 81405,81404
SLC17A5 81479,81479
SLC18A2 81479,81479
SLC19A2 81479,81479
SLC19A3 81479,81479
SLC1A1 81479,81479
SLC1A2 81479,81479
SLC1A3 81479,81479
SLC1A4 81479,81479
SLC25A1 81479,81479
SLC25A12 81479,81479
SLC25A15 81479,81479
SLC25A19 81479,81479
SLC25A20 81405,81404
SLC25A22 81479,81479
SLC25A3 81479,81479
SLC25A4 81404,81479
SLC25A42 81479,81479
SLC2A1 81405,81479
SLC33A1 81479,81479
SLC35A1 81479,81479
SLC35A2 81479,81479
SLC35A3 81479,81479
SLC35C1 81479,81479
SLC39A8 81479,81479
SLC45A1 81479,81479
SLC46A1 81479,81479
SLC5A7 81479,81479
SLC6A1 81479,81479
SLC6A17 81479,81479
SLC6A19 81479,81479
SLC6A5 81479,81479
SLC6A8 81479,81479
SLC7A5 81479,81479
SLC9A1 81479,81479
SLC9A6 81406,81479
SLC9A7 81479,81479
SLC9A9 81479,81479
SMAD2 81479,81479
SMAD4 81406,81405
SMARCA2 81479,81479
SMARCA4 81479,81479
SMARCB1 81479,81479
SMARCC2 81479,81479
SMARCE1 81479,81479
SMC1A 81479,81479
SMC3 81479,81479
SMCHD1 81479,81479
SMG9 81479,81479
SMPD1 81479,81479
SMS 81479,81479
SNAP25 81479,81479
SNAP29 81479,81479
SNIP1 81479,81479
SNRPN 81479,81479
SNX14 81479,81479
SNX27 81479,81479
SON 81479,81479
SOS1 81406,81479
SOX10 81479,81479
SOX11 81479,81479
SOX2 81479,81479
SOX3 81479,81479
SOX5 81479,81479
SPART 81479,81479
SPAST 81406,81405
SPATA5 81479,81479
SPATA5L1 81479,81479
SPEN 81479,81479
SPG11 81407,81479
SPOP 81479,81479
SPR 81479,81479
SPTAN1 81479,81479
SPTBN4 81479,81479
SQSTM1 81479,81479
SRCAP 81479,81479
SRD5A3 81479,81479
SRPX2 81479,81479
SRSF11 81479,81479
SSR4 81479,81479
ST3GAL3 81479,81479
ST3GAL5 81479,81479
ST7 81479,81479
ST8SIA2 81479,81479
STAG1 81479,81479
STAG2 81479,81479
STAMBP 81479,81479
STARD9 81479,81479
STIL 81479,81479
STRA6 81479,81479
STRADA 81479,81479
STT3A 81479,81479
STT3B 81479,81479
STX11 81479,81479
STX1B 81479,81479
STXBP1 81406,81479
STXBP2 81479,81479
STYXL1 81479,81479
SUCLA2 81479,81479
SUCLG1 81479,81479
SUMF1 81479,81479
SUOX 81479,81479
SURF1 81405,81479
SYN1 81479,81479
SYNGAP1 81479,81479
SYNJ1 81479,81479
SYP 81479,81479
SYT1 81479,81479
SYT14 81479,81479
SYT2 81479,81479
SZT2 81479,81479
TAC3 81479,81479
TACO1 81404,81479
TAF1 81479,81479
TANC2 81479,81479
TANGO2 81479,81479
TAOK1 81479,81479
TAOK2 81479,81479
TAT 81479,81479
TBC1D20 81479,81479
TBC1D23 81479,81479
TBC1D24 81479,81479
TBCD 81479,81479
TBCE 81479,81479
TBCK 81479,81479
TBL1XR1 81479,81479
TBR1 81479,81479
TBX1 81479,81479
TBX18 81479,81479
TBX19 81479,81479
TCF20 81479,81479
TCF4 81406,81405
TCTN1 81479,81479
TCTN2 81479,81479
TCTN3 81479,81479
TDGF1 81479,81479
TDP2 81479,81479
TECPR2 81479,81479
TECR 81479,81479
TELO2 81479,81479
TFAP2A 81479,81479
TGDS 81479,81479
TGIF1 81479,81479
TH 81406,81479
THOC2 81479,81479
TIMM50 81479,81479
TIMM8A 81479,81479
TK2 81405,81479
TKT 81479,81479
TLK2 81479,81479
TMEM138 81479,81479
TMEM165 81479,81479
TMEM216 81479,81479
TMEM231 81479,81479
TMEM237 81479,81479
TMEM240 81479,81479
TMEM67 81407,81479
TMEM70 81479,81479
TMEM94 81479,81479
TMLHE 81479,81479
TMTC3 81479,81479
TMX2 81479,81479
TNFRSF11A 81479,81479
TNPO2 81479,81479
TNRC6B 81479,81479
TOE1 81479,81479
TPK1 81479,81479
TPP1 81479,81479
TRAF3IP1 81479,81479
TRAF7 81479,81479
TRAK1 81479,81479
TRAPPC11 81479,81479
TRAPPC6B 81479,81479
TRAPPC9 81479,81479
TREM2 81479,81479
TREX1 81479,81479
TRIM8 81479,81479
TRIO 81479,81479
TRIP12 81479,81479
TRIT1 81479,81479
TRMT1 81479,81479
TRMT10A 81479,81479
TRNT1 81479,81479
TRPM3 81479,81479
TRPM6 81479,81479
TRPS1 81479,81479
TRRAP 81479,81479
TSC1 81406,81405
TSC2 81407,81406
TSEN15 81479,81479
TSEN2 81479,81479
TSEN34 81479,81479
TSEN54 81479,81479
TSFM 81479,81479
TSHZ3 81479,81479
TSPAN7 81479,81479
TTC19 81479,81479
TTC5 81479,81479
TUBA1A 81479,81479
TUBA8 81479,81479
TUBB 81479,81479
TUBB2A 81479,81479
TUBB2B 81479,81479
TUBB3 81479,81479
TUBB4A 81479,81479
TUBG1 81479,81479
TUBGCP4 81479,81479
TUBGCP6 81479,81479
TUSC3 81479,81479
TWIST1 81404,81403
TWNK 81404,81479
TYMP 81405,81479
TYROBP 81479,81479
UBA5 81479,81479
UBE2A 81479,81479
UBE3A 81406,81479
UBN2 81479,81479
UBR5 81479,81479
UBR7 81479,81479
UBTF 81479,81479
UGDH 81479,81479
UGP2 81479,81479
UMPS 81479,81479
UNC13D 81479,81479
UNC80 81479,81479
UPB1 81479,81479
UPF3B 81479,81479
UQCC2 81479,81479
UQCC3 81479,81479
UQCRB 81479,81479
UQCRC2 81479,81479
UQCRQ 81479,81479
USP15 81479,81479
USP7 81479,81479
USP9X 81479,81479
VAMP2 81479,81479
VARS1 81479,81479
VCP 81479,81479
VDR 81479,81479
VLDLR 81479,81479
VPS11 81479,81479
VPS13A 81479,81479
VPS13B 81408,81407
VPS4A 81479,81479
VPS53 81479,81479
VRK1 81479,81479
WAC 81479,81479
WARS2 81479,81479
WASF1 81479,81479
WASHC4 81479,81479
WDR19 81479,81479
WDR26 81479,81479
WDR4 81479,81479
WDR45 81479,81479
WDR45B 81479,81479
WDR62 81407,81479
WDR73 81479,81479
WDR81 81479,81479
WFS1 81479,81479
WWOX 81479,81479
XPA 81479,81479
XPNPEP3 81479,81479
YAP1 81479,81479
YWHAE 81479,81479
YWHAG 81479,81479
YY1 81479,81479
ZBTB18 81479,81479
ZBTB20 81479,81479
ZC3H14 81479,81479
ZC4H2 81479,81479
ZDHHC15 81479,81479
ZDHHC9 81479,81479
ZEB2 81405,81404
ZFYVE26 81479,81479
ZIC2 81479,81479
ZMYND11 81479,81479
ZNF335 81479,81479
ZNF41 81479,81479
ZNF423 81479,81479
ZNF526 81479,81479
ZNF592 81479,81479
ZNF674 81479,81479
ZNF711 81479,81479
ZNF81 81479,81479
ZNHIT3 81479,81479
ZSWIM6 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
16005Genes x (1478)81479 81161(x1), 81175(x1), 81185(x1), 81189(x1), 81236(x1), 81243(x1), 81302(x1), 81304(x1), 81321(x1), 81323(x1), 81403(x7), 81404(x35), 81405(x61), 81406(x61), 81407(x15), 81408(x7), 81479(x2760) $1540 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

28 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

This panel aims to sequences all genes associated with idiopathic and syndromic epilepsy. Included, are those associated with seizures as a major clinical feature or as a minor or variable feature. Importantly, this test only reports variants that fit the mode of inheritance and clinical phenotype of the patient. Patient phenotype information and/or clinical notes are required.

Seizures are caused by abnormal activity in the brain resulting in changes in behavior, motor movements, feelings, or consciousness. Seizures may be triggered by an environmental insult such as head trauma, stroke, or febrile episode or may be the result of a genetic disease. Seizures are classified based on their site of onset: focal, generalized, and unknown (Fisher et al. 2017. PubMed ID: 28276064).

Epilepsy is defined as recurrent unprovoked seizures, and it is divided into subtypes based on the seizures involved: focal, generalized, combined generalized and focal, and unknown (Scheffer et al. 2017. PubMed ID: 28276062). Epilepsy occurs among individuals that are otherwise typically functioning and as a comorbidity in complex neurological diseases. Epilepsy is heterogeneous—there is great variation in the age of onset, type of seizures, developmental outcome, EEG and image findings, response to medication, and associated comorbidities. An epilepsy syndrome refers to a cluster of features incorporating seizure types, together with EEG, and imaging findings (Scheffer et al. 2017. PubMed ID: 28276062).

The etiology of epilepsy is also classified by Scheffer et al. and includes structural, genetic, infectious, metabolic and immune, as well as unknown causes. Importantly, structural and metabolic etiologies may be caused by genetic variants. All etiologies with evidence for genetic causes are included in this panel.

One in 26 people will develop epilepsy in their lifetime (Epilepsy Foundation: epilepsy.com), and the estimated prevalence is 7 per 1,000 (Hirtz et al. 2007 PubMed ID: 17261678). Identifying the molecular basis of a patient’s epilepsy may provide valuable information to inform prognosis, recurrence risk, and treatment. In particular, targeted therapy of genetic epilepsies is an area of rapid change and great promise (see table below). Some patients may benefit from drugs that target a specific pathway, gene product, or functional change to a specific protein (Musto et al. 2020. PubMed ID: 31889633; Reif et al. 2017. PubMed ID: 27781560).

Genetics

Epilepsy is genetically heterogeneous. Over 350 genes are associated with disorders that include epilepsy as a major feature, and approximately 1,500 genes are associated with disorders that include epilepsy as major, minor, or variable feature.

Genes causative for autosomal dominant, autosomal recessive and X-linked epilepsy and seizures are included in this panel. Mild forms of epilepsy may be inherited as a familial trait; however, many epilepsy cases are sporadic, occurring in families with no prior history of seizure (Allen et al. 2013. PubMed ID: 23934111). Sporadic epilepsy may be inherited by X-linked or autosomal recessive transmission but are more commonly caused by dominant, de novo variants in neuronally-expressed genes. De novo pathogenic missense variants are especially common among genetic epilepsies. For example, missense variants in ion channels (channelopathies) may modify gating kinetics, ion permeability, voltage sensitivity, or ligand-binding imparting both gain- or loss-of-function effects (Kullmann. 2002. PubMed ID: 12023309). In addition, a large number of epilepsy-related genes are sensitive to null mutation, and chain-terminating variants are well-documented to be pathogenic (Human Gene Mutation Database). Finally, rare cases of epilepsy have been attributed to copy number changes involving epilepsy-related genes (i.e., ARHGEF9, ARX, CDKL5, CHD2, DNM1, FOXG1, GABRA1, GABRB3, GABRG2, GRIN2A, MBD5, MECP2, MEF2C, PCDH19, PLCB1, PRRT2, SCN1A, SCN2A, SCN8A, SLC2A1, SLC9A6, SPTAN1, STX1B, STXBP1, TSC1 and TSC2). This test includes CNV analysis. 

This panel contains approximately 1,500 genes associated with syndromic and non-syndromic epilepsy of diverse forms. Examples of well-characterized epilepsy syndromes include developmental epileptic encephalopathies, epilepsy with intellectual disability, metabolic disorders, brain malformation disorders, mitochondrial disorders, brain tumors, etc. (Wilmshurst et al. 2015. PubMed ID: 26122601; Baldassari et al. 2016. PubMed ID: 27208208; Ricos et al. 2016. PubMed ID: 26505888; Møller et al. 2016. PubMed ID: 27781031; de Kovel et al. 2016. PubMed ID: 27652284; Hildebrand et al. 2016. PubMed ID: 27029629; von Spiczak et al. 2017. PubMed ID: 28667181; Hamdan et al. 2017. PubMed ID: 29100083).

Importantly, this panel includes over 26 genes that have been associated with precision therapy in gene-drug studies.

Gene Name

Inheritance Mode

Epilepsy Treatment Related References

ALDH7A1

AR

Bennett et al. 2009. PubMed ID: 19128417

BCKDK

AR

Oyarzabal et al. 2016. PubMed ID: 26809120

CAD

AR

Koch et al. 2017. PubMed ID:28007989

CHRNA4

AD

Kurahashi and Hirose. 2015. PubMed ID: 20301348

DEPDC5

AD

Myers and Scheffer. 2017. PubMed ID: 28406046

FOLR1

AR

Steinfeld et al. 2009. PubMed ID: 19732866

GAMT

AR

Bodamer et al. 2009. PubMed ID: 19255414

GRIN2A

AD

Pierson et al. 2014. PubMed ID: 24839611

GRIN2B

AD

Platzer et al. 2017. PubMed ID: 28377535

GRIN2D

AD

Li et al. 2016. PubMed ID: 27616483

KCNQ2

AD

Sands et al. 2016. PubMed ID: 27888506

KCNQ3

AD

Sands et al. 2016. PubMed ID: 27888506

KCNT1

AD

Mikati et al. 2015. PubMed ID: 26369628

PCDH19

AD

Trivisano et al. 2015. PubMed ID: 25510386

PNPO

AR

Bagci et al. 2007. PubMed ID: 18296573

POLG

AR

Hynynen et al. 2014. PubMed ID: 25065347

PLPBP

AR

Darin et al. 2016. PubMed ID: 27912044

PRRT2

AD

Chou et al. 2014. PubMed ID: 25520928

SCN1A

AD

Miller and Sotero de Menezes 2007. PubMed ID: 20301494.

SCN2A

AD

Wolff et al. 2017. PubMed ID: 28379373

SCN8A

AD

Boerma et al. 2016. PubMed ID: 26252990

SLC19A3

AR

Tabarki et al. 2013. PubMed ID: 23269594

SLC2A1

AD

Leen et al. 2010. PubMed ID: 20129935

STXBP1

AD

Dilena et al. 2016. PubMed ID: 26212315

TSC1

AD

Palavra et al. 2017. PubMed ID: 28386314

TSC2

AD

Palavra et al. 2017. PubMed ID: 28386314

See individual gene summaries for more information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Extrapolating from previously published studies of next generation sequencing in large cohorts, a positive test result is expected in the proportions listed: 37% for early infantile epileptic encephalopathy (Della Mina et al. 2015. PubMed ID:24848745; Wang et al. 2014. PubMed ID:24818677; Ream and Mikati. 2014.PubMed ID:25108116), 25-35% for autosomal dominant nocturnal frontal lobe epilepsy, 12-37% for autosomal dominant focal epilepsy (Dibbens et al. 2013. PubMed ID:23542697; Picard et al. 2014. PubMed ID:24814846), 90% for Dravet syndrome (Carvill et al. 2014. PubMed ID:24623842).

Testing Strategy

The Comprehensive Epilepsy and Seizure Panel offers traditional Patient Only testing as well as options of Family testing (e.g., Duo, Trio, etc) or Patient Plus testing. For Patient Plus, we require specimens from both biological parents along with the patient’s specimen. NGS Panel testing is performed on the patient’s specimen, and targeted Sanger sequencing is performed on parental specimens to determine inheritance, de novo occurrence, and/or phase. For the highest diagnostic rate, Family - Trio testing is recommended.

For the Comprehensive Epilepsy and Seizure Panel we use Next Generation Sequencing (NGS) technologies to cover the coding regions of targeted genes plus ~10 bases of non-coding DNA flanking each exon. As required, genomic DNA is extracted from patient specimens. Patient DNA corresponding to these regions is captured using hybridization probes. Captured DNA is sequenced on the NovaSeq 6000 using 2x150 bp paired-end reads (Illumina, San Diego, CA, USA). The following quality control metrics are generally achieved: 98.7% of target bases are covered at >20x and mean coverage of target bases >100x. Data analysis and interpretation is performed by the internally developed Infinity pipeline. Variant calls are made by the GATK Haplotype caller and annotated using in house software and Jannovar. Common benign, likely benign, and low quality variants are filtered from analysis.

Copy number variants (CNVs) are also detected from NGS data. We utilize a CNV calling algorithm that compares mean read depth and distribution for each target in the test sample against multiple matched controls. Neighboring target read depth and distribution and zygosity of any variants within each target region are used to reinforce CNV calls. All reported CNVs are confirmed using another technology such as aCGH, MLPA, or PCR.

The report will not include all the observed variants in a patient due to the large number of genes included. However, the list of variants is available, along with our interpretations, upon request. 

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Testing is recommended for patients with syndromic or non-syndromic epilepsy for which a genetic etiology is suspected. This test sequences the most comprehensive list of genes related to epilepsy, but reporting is limited to variants well-matched with the patient's phenotype and mode of inheritance. This test is appropriate when sequential exome testing may be desired.

Genes

Official Gene Symbol OMIM ID
AASS 605113
ABAT 137150
ABCA2 600047
ABCB7 300135
ABCC8 600509
ABCC9 601439
ABCD1 300371
ABHD16A 142620
ACAD9 611103
ACADM 607008
ACADS 606885
ACADSB 600301
ACAT1 607809
ACO2 100850
ACOX1 609751
ACP5 171640
ACSF3 614245
ACSL4 300157
ACTB 102630
ACTG1 102560
ACTL6B 612458
ACVR1 102576
ACY1 104620
ADAM22 603709
ADAR 146920
ADARB1 601218
ADAT3 615302
ADD3 601568
ADGRG1 604110
ADGRV1 602851
ADK 102750
ADNP 611386
ADPRS 610624
ADRA2B 104260
ADSL 608222
AFF2 300806
AFF3 601464
AFG3L2 604581
AGA 613228
AGK 610345
AGTR2 300034
AHCY 180960
AHDC1 615790
AHI1 608894
AIFM1 300169
AIMP1 603605
AIMP2 600859
AKT1 164730
AKT2 164731
AKT3 611223
ALAD 125270
ALDH18A1 138250
ALDH3A2 609523
ALDH4A1 606811
ALDH5A1 610045
ALDH7A1 107323
ALDOA 103850
ALDOB 612724
ALG1 605907
ALG11 613666
ALG12 607144
ALG13 300776
ALG14 612866
ALG2 607905
ALG3 608750
ALG6 604566
ALG8 608103
ALG9 606941
ALKBH8 613306
ALMS1 606844
ALPL 171760
ALX4 605420
AMACR 604489
AMER1 300647
AMPD2 102771
AMT 238310
ANK2 106410
ANK3 600465
ANKH 605145
ANKLE2 616062
ANKRD11 611192
ANKRD17 0
ANO10 613726
ANO3 610110
ANTXR1 606410
AP1G1 603533
AP1S2 300629
AP2M1 601024
AP2S1 602242
AP3B2 602166
AP3D1 607246
AP4B1 607245
AP4E1 607244
AP4M1 602296
AP4S1 607243
APC2 612034
APTX 606350
AQP2 107777
ARFGEF2 605371
ARG1 608313
ARHGAP31 610911
ARHGEF15 608504
ARHGEF6 300267
ARHGEF9 300429
ARID1A 603024
ARID1B 614556
ARID2 609539
ARL13B 608922
ARMC9 617612
ARNT2 606036
ARSA 607574
ARV1 611647
ARX 300382
ASAH1 613468
ASCL1 100790
ASH1L 607999
ASL 608310
ASNS 108370
ASPA 608034
ASPM 605481
ASS1 603470
ASTN2 612856
ASXL1 612990
ASXL2 612991
ASXL3 615115
ATAD1 614452
ATIC 601731
ATN1 607462
ATP13A2 610513
ATP1A1 182310
ATP1A2 182340
ATP1A3 182350
ATP2A2 108740
ATP2B3 300014
ATP5F1A 164360
ATP5F1E 606153
ATP6AP1 300197
ATP6AP2 300556
ATP6V0A2 611716
ATP6V1A 607027
ATP6V1B2 606939
ATP7A 300011
ATP8A2 605870
ATPAF2 608918
ATR 601215
ATRX 300032
AUH 600529
AUTS2 607270
AVPR2 300538
B3GALNT2 610194
B4GALNT1 601873
B4GALT1 137060
B4GAT1 605517
B9D1 614144
BAZ2B 605683
BCAP31 300398
BCAS3 607470
BCKDHA 608348
BCKDHB 248611
BCKDK 614901
BCL11A 606557
BCL11B 606558
BCOR 300485
BCORL1 300688
BCS1L 603647
BDNF 113505
BMP4 112262
BOLA3 613183
BPNT2 614010
BPTF 601819
BRAF 164757
BRAT1 614506
BRPF1 602410
BRSK2 609236
BRWD3 300553
BSCL2 606158
BSN 604020
BTD 609019
BUB1B 602860
C12orf57 615140
C2CD3 615944
C2orf69 0
CA8 114815
CACNA1A 601011
CACNA1B 601012
CACNA1C 114205
CACNA1D 114206
CACNA1E 601013
CACNA1G 604065
CACNA1H 607904
CACNA1I 608230
CACNA2D1 114204
CACNA2D2 607082
CACNB4 601949
CAD 114010
CAMK2A 114078
CAMK2B 607707
CAMTA1 611501
CAPN10 605286
CARS2 612800
CASK 300172
CASR 601199
CAV1 601047
CBL 165360
CBS 613381
CC2D1A 610055
CC2D2A 612013
CCBE1 612753
CCDC115 613734
CCDC88A 609736
CCDC88C 611204
CCM2 607929
CCND2 123833
CD96 606037
CDC42 116952
CDH11 600023
CDH15 114019
CDH2 114020
CDK10 603464
CDK13 603309
CDK19 0
CDK5 123831
CDK5RAP2 608201
CDK6 603368
CDK8 603184
CDKL5 300203
CDKN1C 600856
CDON 608707
CELF4 612679
CENPE 117143
CENPJ 609279
CEP104 616690
CEP120 613446
CEP135 611423
CEP152 613529
CEP164 614848
CEP290 610142
CEP41 610523
CEP57 607951
CEP63 614724
CEP85L 618865
CERS1 606919
CERT1 604677
CHAMP1 616327
CHAT 118490
CHD1 602118
CHD1L 613039
CHD2 602119
CHD4 603277
CHD7 608892
CHD8 610528
CHKB 612395
CHL1 607416
CHRNA2 118502
CHRNA4 118504
CHRNA7 118511
CHRNB2 118507
CIC 612082
CILK1 612325
CIT 605629
CKAP2L 616174
CLCF1 607672
CLCN2 600570
CLCN3 600580
CLCN4 302910
CLDN16 603959
CLIP1 179838
CLN3 607042
CLN5 608102
CLN6 606725
CLN8 607837
CLP1 608757
CLPB 616254
CLPP 601119
CLTC 118955
CNKSR2 300724
CNNM2 607803
CNOT1 604917
CNOT3 604910
CNPY3 610774
CNTN2 190197
CNTN4 607280
CNTNAP1 602346
CNTNAP2 604569
COA3 614775
COA5 613920
COA7 615623
COA8 616003
COASY 609855
COG1 606973
COG4 606976
COG5 606821
COG6 606977
COG7 606978
COG8 606979
COL18A1 120328
COL4A1 120130
COL4A2 120090
COLGALT1 617531
COMT 116790
COQ2 609825
COQ4 612898
COQ5 616359
COQ6 614647
COQ8A 606980
COQ9 612837
COX10 602125
COX14 614478
COX15 603646
COX20 614698
COX6B1 124089
COX7B 603792
CPA6 609562
CPLANE1 614571
CPLX1 605032
CPS1 608307
CPT1A 600528
CPT2 600650
CRADD 603454
CRB2 609720
CRBN 609262
CREBBP 600140
CRH 122560
CRIPT 604594
CRLF1 604237
CRPPA 614631
CSDE1 191510
CSF1R 164770
CSMD1 608397
CSNK2A1 115440
CSNK2B 115441
CSPP1 611654
CSTB 601145
CTC1 613129
CTCF 604167
CTNNA2 114025
CTNNB1 116806
CTNND2 604275
CTSA 613111
CTSD 116840
CTSF 603539
CTU2 617057
CUL3 603136
CUL4B 300304
CUX1 116896
CUX2 610648
CYB5R3 613213
CYC1 123980
CYFIP2 606323
CYP27A1 606530
CYP27B1 609506
D2HGDH 609186
DAG1 128239
DARS2 610956
DBH 609312
DBT 248610
DCC 120470
DCHS1 603057
DCX 300121
DDC 107930
DDOST 602202
DDX3X 300160
DEAF1 602635
DEGS1 615843
DENND5A 617278
DEPDC5 614191
DGUOK 601465
DHCR24 606418
DHCR7 602858
DHDDS 608172
DHFR 126060
DHPS 600944
DHTKD1 614984
DHX30 616423
DIAPH1 602121
DIP2B 611379
DIP2C 611380
DIS3L2 614184
DISP1 607502
DLAT 608770
DLD 238331
DLG1 601014
DLG2 603583
DLG3 300189
DLG4 602887
DLGAP2 605438
DLL1 606582
DLL4 605185
DMBX1 607410
DMD 300377
DMXL2 612186
DNA2 601810
DNAJC12 606060
DNAJC19 608977
DNAJC5 611203
DNAJC6 608375
DNM1 602377
DNM1L 603850
DNMT3A 602769
DOCK6 614194
DOCK7 615730
DOLK 610746
DPAGT1 191350
DPH1 603527
DPM1 603503
DPM2 603564
DPYD 612779
DPYS 613326
DSCAM 602523
DYNC1H1 600112
DYRK1A 600855
EARS2 612799
EBF3 607407
EBP 300205
ECHS1 602292
ECM1 602201
EDC3 609842
EEF1A2 602959
EFHC1 608815
EFTUD2 603892
EGF 131530
EHHADH 607037
EHMT1 607001
EIF2AK2 176871
EIF2AK3 604032
EIF2B1 606686
EIF2B2 606454
EIF2B3 606273
EIF2B4 606687
EIF2B5 603945
EIF2S3 300161
EIF3F 603914
ELAC2 605367
ELMO2 606421
ELOVL4 605512
ELP4 606985
EMC1 616846
EMG1 611531
EML1 602033
EMX2 600035
ENPP1 173335
EOGT 614789
EP300 602700
EPB41L1 602879
EPG5 615068
EPM2A 607566
ERCC1 126380
ERCC2 126340
ERCC3 133510
ERCC4 133520
ERCC5 133530
ERCC6 609413
ERCC8 609412
ERF 611888
ERLIN2 611605
ERMARD 615532
ESCO2 609353
ETFA 608053
ETFB 130410
ETFDH 231675
ETHE1 608451
EXOC6B 607880
EXOC7 608163
EXOSC3 606489
EXOSC8 606019
EXT2 608210
EXTL3 605744
EZH2 601573
FA2H 611026
FAM111A 615292
FAM126A 610531
FAM50A 300453
FAR1 616107
FARS2 611592
FARSB 609690
FASN 600212
FASTKD2 612322
FAT4 612411
FBP1 611570
FBXL4 605654
FBXO11 607871
FBXO28 609100
FBXO31 609102
FDFT1 184420
FDX2 614585
FDXR 103270
FGD1 300546
FGF12 601513
FGF13 300070
FGF23 605380
FGF8 600483
FGFR1 136350
FGFR2 176943
FGFR3 134934
FH 136850
FIG4 609390
FKRP 606596
FKTN 607440
FLNA 300017
FLRT3 604808
FLVCR1 609144
FLVCR2 610865
FMN2 606373
FMR1 309550
FOLR1 136430
FOXG1 164874
FOXH1 603621
FOXP1 605515
FOXRED1 613622
FRMPD4 300838
FRRS1L 604574
FTL 134790
FTO 610966
FTSJ1 300499
FUCA1 612280
FUT8 602589
FXYD2 601814
G6PC1 613742
GABBR2 607340
GABRA1 137160
GABRA2 137140
GABRA3 305660
GABRA5 137142
GABRA6 137143
GABRB1 137190
GABRB2 600232
GABRB3 137192
GABRD 137163
GABRG2 137164
GABRG3 600233
GAD1 605363
GALC 606890
GALNT2 602274
GAMT 601240
GAS1 139185
GATA3 131320
GATA6 601656
GATAD2B 614998
GATM 602360
GBA 606463
GCDH 608801
GCH1 600225
GCSH 238330
GDI1 300104
GFAP 137780
GFER 600924
GFM1 606639
GFM2 606544
GJA1 121014
GJC2 608803
GK 300474
GLB1 611458
GLDC 238300
GLI2 165230
GLI3 165240
GLRA1 138491
GLRA2 305990
GLRB 138492
GLS 138280
GLUD1 138130
GLUL 138290
GLYCTK 610516
GM2A 613109
GMPPA 615495
GMPPB 615320
GNAI1 139310
GNAO1 139311
GNAQ 600998
GNAS 139320
GNB1 139380
GNB5 604447
GNE 603824
GNPTAB 607840
GNPTG 607838
GNRH1 152760
GNS 607664
GOLGA2 602580
GOSR2 604027
GPAA1 603048
GPC3 300037
GPC4 300168
GPHN 603930
GPSM2 609245
GPT2 138210
GRIA2 138247
GRIA3 305915
GRIA4 138246
GRIK2 138244
GRIN1 138249
GRIN2A 138253
GRIN2B 138252
GRIN2D 602717
GRIP1 604597
GRM1 604473
GRM7 604101
GRN 138945
GSS 601002
GTF2H5 608780
GTF2IRD1 604318
GTPBP2 607434
GTPBP3 608536
GUF1 617064
GUSB 611499
H3-3A 601128
H3-3B 601058
HACE1 610876
HADH 601609
HARS2 600783
HAX1 605998
HCCS 300056
HCFC1 300019
HCN1 602780
HCN2 602781
HCN4 605206
HDAC4 605314
HDAC8 300269
HECW2 617245
HEPACAM 611642
HERC1 605109
HERC2 605837
HESX1 601802
HEXA 606869
HEXB 606873
HGSNAT 610453
HIBCH 610690
HIVEP2 143054
HLCS 609018
HMGCL 613898
HMGCS2 600234
HNRNPH2 300610
HNRNPK 600712
HNRNPR 607201
HNRNPU 602869
HOXA1 142955
HPD 609695
HPDL 0
HPRT1 308000
HRAS 190020
HSD17B10 300256
HSD17B4 601860
HSPD1 118190
HTRA1 602194
HTRA2 606441
HUWE1 300697
IBA57 615316
IDH2 147650
IDS 300823
IDUA 252800
IER3IP1 609382
IFIH1 606951
IFT140 614620
IKBKG 300248
IL12B 161561
IL1RAPL1 300206
ILF2 603181
INO80 610169
INPP5E 613037
INPP5K 607875
INS 176730
INSR 147670
INTS6 604331
IQSEC2 300522
IRF2BPL 611720
ITPA 147520
ITPR1 147265
IVD 607036
JAM3 606871
JMJD1C 604503
KANK1 607704
KANSL1 612452
KARS1 601421
KAT2B 602303
KAT5 601409
KAT6A 601408
KAT6B 605880
KAT8 609912
KATNB1 602703
KCNA1 176260
KCNA2 176262
KCNB1 600397
KCNC1 176258
KCNC3 176264
KCND2 605410
KCND3 605411
KCNH1 603305
KCNJ1 600359
KCNJ10 602208
KCNJ11 600937
KCNJ2 600681
KCNJ6 600877
KCNMA1 600150
KCNQ2 602235
KCNQ3 602232
KCNQ5 607357
KCNT1 608167
KCNT2 610044
KCTD3 613272
KCTD7 611725
KDM2B 609078
KDM3B 609373
KDM4B 609765
KDM5B 605393
KDM5C 314690
KDM6A 300128
KDM6B 611577
KIAA0586 610178
KIF11 148760
KIF1A 601255
KIF2A 602591
KIF4A 300521
KIF5C 604593
KIF7 611254
KIFBP 609367
KIRREL3 607761
KISS1 603286
KLHL15 300980
KLHL7 611119
KMT2C 606833
KMT2D 602113
KMT2E 608444
KMT5B 610881
KPNA7 614107
KPTN 615620
KRAS 190070
KRIT1 604214
L1CAM 308840
L2HGDH 609584
LAMA2 156225
LAMB1 150240
LAMC3 604349
LARGE1 603590
LARS1 151350
LARS2 604544
LAS1L 300964
LBR 600024
LEO1 610507
LGI1 604619
LGI4 608303
LIAS 607031
LIG4 601837
LINGO1 609791
LIPT1 610284
LMAN2L 609552
LMBRD1 612625
LMNB1 150340
LNPK 610236
LONP1 605490
LRP2 600073
LRPPRC 607544
LSS 600909
LYRM7 615831
LYST 606897
LZTFL1 606568
MACF1 608271
MADD 603584
MAF 177075
MAGEL2 605283
MAGI2 606382
MAN1B1 604346
MANBA 609489
MAOA 309850
MAP1B 157129
MAP2K1 176872
MAP2K2 601263
MAP3K3 602539
MAPK10 602897
MAPK8IP3 605431
MAPRE2 605789
MARS2 609728
MAST1 612256
MAT1A 610550
MATN4 603897
MBD5 611472
MBOAT7 606048
MBTPS2 300294
MCCC1 609010
MCCC2 609014
MCOLN1 605248
MCPH1 607117
MDH2 154100
MECP2 300005
MED12 300188
MED12L 611318
MED13 603808
MED13L 608771
MED17 603810
MED23 605042
MED25 610197
MED27 605044
MEF2C 600662
MEGF10 612453
MEIS2 601740
METTL23 615262
MFF 614785
MFSD2A 614397
MFSD8 611124
MGAT2 602616
MGME1 615076
MGP 154870
MID1 300552
MID2 300204
MIPEP 602241
MKS1 609883
MLC1 605908
MLYCD 606761
MMAA 607481
MMAB 607568
MMACHC 609831
MMADHC 611935
MMUT 609058
MN1 156100
MOCS1 603707
MOCS2 603708
MOGS 601336
MORC2 616661
MPC1 614738
MPDU1 604041
MPDZ 603785
MPLKIP 609188
MPV17 137960
MRAP 609196
MRPS22 605810
MSL3 300609
MSX2 123101
MTFMT 611766
MTHFR 607093
MTO1 614667
MTOR 601231
MTPAP 613669
MTR 156570
MTRR 602568
MVK 251170
MYH3 160720
MYO5A 160777
MYT1L 613084
NAA10 300013
NAA15 608000
NACC1 610672
NADK2 615787
NAGA 104170
NAGLU 609701
NAGS 608300
NALCN 611549
NANS 605202
NAPB 611270
NARS1 108410
NARS2 612803
NAT8L 610647
NAXD 615910
NAXE 608862
NBEA 604889
NCDN 608458
NCKAP1 604891
NCOR1 600849
NDE1 609449
NDN 602117
NDP 300658
NDST1 600853
NDUFA1 300078
NDUFA10 603835
NDUFA11 612638
NDUFA12 614530
NDUFA2 602137
NDUFA4 603833
NDUFA9 603834
NDUFAF1 606934
NDUFAF2 609653
NDUFAF3 612911
NDUFAF4 611776
NDUFAF5 612360
NDUFAF6 612392
NDUFAF8 618461
NDUFB11 300403
NDUFB3 603839
NDUFB8 602140
NDUFB9 601445
NDUFS1 157655
NDUFS2 602985
NDUFS3 603846
NDUFS4 602694
NDUFS6 603848
NDUFS7 601825
NDUFS8 602141
NDUFV1 161015
NDUFV2 600532
NECAP1 611623
NEDD4L 606384
NEU1 608272
NEUROD2 601725
NEXMIF 300524
NF1 613113
NFIA 600727
NFIB 600728
NFIX 164005
NFU1 608100
NGLY1 610661
NHLRC1 608072
NIN 608684
NIPA1 608145
NIPBL 608667
NKX6-2 605955
NLGN1 600568
NLGN3 300336
NLGN4X 300427
NLRP3 606416
NNT 607878
NONO 300084
NOTCH3 600276
NOVA2 601991
NPC1 607623
NPC2 601015
NPHP1 607100
NPHP3 608002
NPRL2 607072
NPRL3 600928
NR2F1 132890
NR4A2 601828
NRAS 164790
NRROS 615322
NRXN1 600565
NRXN3 600567
NSD1 606681
NSDHL 300275
NSUN2 610916
NTNG1 608818
NTNG2 0
NTRK2 600456
NUBPL 613621
NUP107 607617
NUP188 615587
NUS1 610463
OCLN 602876
OCRL 300535
OFD1 300170
OGDHL 617513
OGT 300255
OPA3 606580
OPHN1 300127
OSGEP 610107
OTC 300461
OTUD6B 612021
OTX2 600037
OXR1 605609
P4HTM 0
PACS1 607492
PACS2 610423
PAFAH1B1 601545
PAH 612349
PAK1 602590
PAK3 300142
PANK2 606157
PARS2 612036
PAX6 607108
PBX1 176310
PC 608786
PCCA 232000
PCCB 232050
PCDH12 605622
PCDH19 300460
PCK1 614168
PCLO 604918
PCNT 605925
PCYT2 602679
PDE4D 600129
PDE6D 602676
PDGFRB 173410
PDHA1 300502
PDHX 608769
PDP1 605993
PDSS1 607429
PDSS2 610564
PET100 614770
PEX1 602136
PEX10 602859
PEX11B 603867
PEX12 601758
PEX13 601789
PEX14 601791
PEX16 603360
PEX19 600279
PEX2 170993
PEX26 608666
PEX3 603164
PEX5 600414
PEX6 601498
PEX7 601757
PGAP1 611655
PGAP2 615187
PGAP3 611801
PGK1 311800
PGM2L1 611610
PHACTR1 608723
PHC1 602978
PHF21A 608325
PHF3 607789
PHF6 300414
PHGDH 606879
PI4KA 600286
PIDD1 605247
PIEZO2 613629
PIGA 311770
PIGB 604122
PIGC 601730
PIGG 616918
PIGH 600154
PIGK 605087
PIGL 605947
PIGM 610273
PIGN 606097
PIGO 614730
PIGP 605938
PIGQ 605754
PIGS 610271
PIGT 610272
PIGU 608528
PIGV 610274
PIGW 610275
PIGY 610662
PIK3AP1 607942
PIK3CA 171834
PIK3R2 603157
PLA2G6 603604
PLAA 603873
PLCB1 607120
PLEKHG2 611893
PLK4 605031
PLP1 300401
PLPBP 604436
PMM2 601785
PMPCA 613036
PMPCB 603131
PNKP 605610
PNPLA8 612123
PNPO 603287
PNPT1 610316
POGZ 614787
POLA1 312040
POLG 174763
POLG2 604983
POLR2A 180660
POLR3A 614258
POLR3B 614366
POMGNT1 606822
POMGNT2 614828
POMK 615247
POMT1 607423
POMT2 607439
POU1F1 173110
POU3F3 602480
PPA2 609988
PPARG 601487
PPM1D 605100
PPM1K 611065
PPP1R15B 613257
PPP2CA 176915
PPP2R1A 605983
PPP2R5D 601646
PPP3CA 114105
PPT1 600722
PQBP1 300463
PREPL 609557
PRF1 170280
PRICKLE1 608500
PRICKLE2 608501
PRIMA1 613851
PRKAR1A 188830
PRMT7 610087
PROP1 601538
PRPS1 311850
PRRT2 614386
PRSS12 606709
PRUNE1 617413
PSAP 176801
PSAT1 610936
PSMD12 604450
PSPH 172480
PTCH1 601309
PTCHD1 300828
PTEN 601728
PTPN11 176876
PTPN23 606584
PTPN4 176878
PTRH2 608625
PTS 612719
PUF60 604819
PUM1 607204
PURA 600473
PUS1 608109
PUS3 616283
PYCR2 616406
QARS1 603727
QDPR 612676
QRICH1 617387
RAB11A 605570
RAB11B 604198
RAB18 602207
RAB27A 603868
RAB39B 300774
RAB3GAP1 602536
RAB3GAP2 609275
RAC1 602048
RAD21 606462
RAF1 164760
RAI1 607642
RALA 179550
RALGAPA1 608884
RALGAPB 0
RANBP2 601181
RARS2 611524
RBBP8 604124
RBFOX1 605104
RBFOX3 616999
RBM10 300080
RBM8A 605313
RBPJ 147183
RECQL4 603780
REEP1 609139
RELN 600514
RERE 605226
RFT1 611908
RHOBTB2 607352
RIT1 609591
RMND1 614917
RNASEH2A 606034
RNASEH2B 610326
RNASEH2C 610330
RNASET2 612944
RNF113A 300951
RNF125 610432
RNF13 609247
RNF168 612688
ROGDI 614574
RORA 600825
RORB 601972
RPGRIP1L 610937
RPIA 180430
RPL10 312173
RPS6KA3 300075
RRM2B 604712
RSRC1 613352
RTN4IP1 610502
RTTN 610436
RXYLT1 605862
RYR2 180902
SACS 604490
SAMHD1 606754
SASS6 609321
SATB1 602075
SATB2 608148
SC5D 602286
SCAF4 0
SCARB2 602257
SCN10A 604427
SCN1A 182389
SCN1B 600235
SCN2A 182390
SCN3A 182391
SCN8A 600702
SCO1 603644
SCO2 604272
SCYL2 616365
SDCCAG8 613524
SDHA 600857
SDHAF1 612848
SEC24D 607186
SEMA6B 608873
SEPSECS 613009
SERAC1 614725
SERPINI1 602445
SET 600960
SETBP1 611060
SETD1A 611052
SETD1B 611055
SETD2 612778
SETD5 615743
SFXN4 615564
SGCE 604149
SGSH 605270
SH2B1 608937
SHANK1 604999
SHANK3 606230
SHH 600725
SHROOM4 300579
SIN3A 607776
SIX3 603714
SKI 164780
SLC12A1 600839
SLC12A3 600968
SLC12A5 606726
SLC12A6 604878
SLC13A5 608305
SLC16A1 600682
SLC16A2 300095
SLC17A5 604322
SLC18A2 193001
SLC19A2 603941
SLC19A3 606152
SLC1A1 133550
SLC1A2 600300
SLC1A3 600111
SLC1A4 600229
SLC25A1 190315
SLC25A12 603667
SLC25A15 603861
SLC25A19 606521
SLC25A20 613698
SLC25A22 609302
SLC25A3 600370
SLC25A4 103220
SLC25A42 610823
SLC2A1 138140
SLC33A1 603690
SLC35A1 605634
SLC35A2 314375
SLC35A3 605632
SLC35C1 605881
SLC39A8 608732
SLC45A1 605763
SLC46A1 611672
SLC5A7 608761
SLC6A1 137165
SLC6A17 610299
SLC6A19 608893
SLC6A5 604159
SLC6A8 300036
SLC7A5 600182
SLC9A1 107310
SLC9A6 300231
SLC9A7 300368
SLC9A9 608396
SMAD2 601366
SMAD4 600993
SMARCA2 600014
SMARCA4 603254
SMARCB1 601607
SMARCC2 601734
SMARCE1 603111
SMC1A 300040
SMC3 606062
SMCHD1 614982
SMG9 613176
SMPD1 607608
SMS 300105
SNAP25 600322
SNAP29 604202
SNIP1 608241
SNRPN 182279
SNX14 616105
SNX27 611541
SON 182465
SOS1 182530
SOX10 602229
SOX11 600898
SOX2 184429
SOX3 313430
SOX5 604975
SPART 607111
SPAST 604277
SPATA5 613940
SPATA5L1 619578
SPEN 613484
SPG11 610844
SPOP 602650
SPR 182125
SPTAN1 182810
SPTBN4 606214
SQSTM1 601530
SRCAP 611421
SRD5A3 611715
SRPX2 300642
SRSF11 602010
SSR4 300090
ST3GAL3 606494
ST3GAL5 604402
ST7 600833
ST8SIA2 602546
STAG1 604358
STAG2 300826
STAMBP 606247
STARD9 614642
STIL 181590
STRA6 610745
STRADA 608626
STT3A 601134
STT3B 608605
STX11 605014
STX1B 601485
STXBP1 602926
STXBP2 601717
STYXL1 616695
SUCLA2 603921
SUCLG1 611224
SUMF1 607939
SUOX 606887
SURF1 185620
SYN1 313440
SYNGAP1 603384
SYNJ1 604297
SYP 313475
SYT1 185605
SYT14 610949
SYT2 600104
SZT2 615463
TAC3 162330
TACO1 612958
TAF1 313650
TANC2 615047
TANGO2 616830
TAOK1 610266
TAOK2 613199
TAT 613018
TBC1D20 611663
TBC1D23 617687
TBC1D24 613577
TBCD 604649
TBCE 604934
TBCK 616899
TBL1XR1 608628
TBR1 604616
TBX1 602054
TBX18 604613
TBX19 604614
TCF20 603107
TCF4 602272
TCTN1 609863
TCTN2 613846
TCTN3 613847
TDGF1 187395
TDP2 605764
TECPR2 615000
TECR 610057
TELO2 611140
TFAP2A 107580
TGDS 616146
TGIF1 602630
TH 191290
THOC2 300395
TIMM50 607381
TIMM8A 300356
TK2 188250
TKT 606781
TLK2 608439
TMEM138 614459
TMEM165 614726
TMEM216 613277
TMEM231 614949
TMEM237 614423
TMEM240 616101
TMEM67 609884
TMEM70 612418
TMEM94 618163
TMLHE 300777
TMTC3 617218
TMX2 616715
TNFRSF11A 603499
TNPO2 603002
TNRC6B 610740
TOE1 613931
TPK1 606370
TPP1 607998
TRAF3IP1 607380
TRAF7 606692
TRAK1 608112
TRAPPC11 614138
TRAPPC6B 610397
TRAPPC9 611966
TREM2 605086
TREX1 606609
TRIM8 606125
TRIO 601893
TRIP12 604506
TRIT1 617840
TRMT1 611669
TRMT10A 616013
TRNT1 612907
TRPM3 608961
TRPM6 607009
TRPS1 604386
TRRAP 603015
TSC1 605284
TSC2 191092
TSEN15 608756
TSEN2 608753
TSEN34 608754
TSEN54 608755
TSFM 604723
TSHZ3 614119
TSPAN7 300096
TTC19 613814
TTC5 619014
TUBA1A 602529
TUBA8 605742
TUBB 191130
TUBB2A 615101
TUBB2B 612850
TUBB3 602661
TUBB4A 602662
TUBG1 191135
TUBGCP4 609610
TUBGCP6 610053
TUSC3 601385
TWIST1 601622
TWNK 606075
TYMP 131222
TYROBP 604142
UBA5 610552
UBE2A 312180
UBE3A 601623
UBN2 613841
UBR5 608413
UBR7 613816
UBTF 600673
UGDH 603370
UGP2 191760
UMPS 613891
UNC13D 608897
UNC80 612636
UPB1 606673
UPF3B 300298
UQCC2 614461
UQCC3 616097
UQCRB 191330
UQCRC2 191329
UQCRQ 612080
USP15 604731
USP7 602519
USP9X 300072
VAMP2 185881
VARS1 192150
VCP 601023
VDR 601769
VLDLR 192977
VPS11 608549
VPS13A 605978
VPS13B 607817
VPS4A 609982
VPS53 615850
VRK1 602168
WAC 615049
WARS2 604733
WASF1 605035
WASHC4 615748
WDR19 608151
WDR26 617424
WDR4 605924
WDR45 300526
WDR45B 609226
WDR62 613583
WDR73 616144
WDR81 614218
WFS1 606201
WWOX 605131
XPA 611153
XPNPEP3 613553
YAP1 606608
YWHAE 605066
YWHAG 605356
YY1 600013
ZBTB18 608433
ZBTB20 606025
ZC3H14 613279
ZC4H2 300897
ZDHHC15 300576
ZDHHC9 300646
ZEB2 605802
ZFYVE26 612012
ZIC2 603073
ZMYND11 608668
ZNF335 610827
ZNF41 314995
ZNF423 604557
ZNF526 614387
ZNF592 613624
ZNF674 300573
ZNF711 314990
ZNF81 314998
ZNHIT3 604500
ZSWIM6 615951
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
2,4-dienoyl-CoA reductase deficiency AR 616034
2-aminoadipic 2-oxoadipic aciduria AR 204750
2-Methyl-3-Hydroxybutyric Aciduria XL 300438
2-Methylbutyryl-CoA Dehydrogenase Deficiency AR 610006
3 Methylcrotonyl-CoA Carboxylase 1 Deficiency AR 210200
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency AR 246450
3-Methylcrotonyl CoA Carboxylase 2 Deficiency AR 210210
3-Methylglutaconic Aciduria AR 250950
3-Methylglutaconic Aciduria Type 3 AR 258501
3-Methylglutaconic Aciduria Type V AR 610198
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome AR 614739
3-methylglutaconic aciduria, type IX AR 617698
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia AR 616271
3-methylglutaconic aciduria, type VIII AR 617248
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency AR 261640
Aarskog Syndrome XL 305400
Achondroplasia AD 100800
Acrocallosal Syndrome, Schinzel Type AR 200990
Acrodysostosis AD 101800
Acrodysostosis 2, with or without Hormone Resistance AD 614613
Acrokeratosis Verruciformis Of Hopf AD 101900
Acromelic frontonasal dysostosis AD 603671
Acth Deficiency AR 201400
ACTH-independent macronodular adrenal hyperplasia 219080
Acute Lymphoblastic Leukemia 613065
Adams-Oliver Syndrome 1 AD 100300
Adams-Oliver Syndrome 2 AR 614219
Adams-Oliver Syndrome 3 AD 614814
Adams-Oliver Syndrome 4 AR 615297
Adams-Oliver Syndrome 6 AD 616589
Adenylosuccinate Lyase Deficiency AR 103050
Adolescent Nephronophthisis AR 604387
Adrenoleukodystrophy XL 300100
Adult Hypophosphatasia AD 146300
Adult Onset Ataxia With Oculomotor Apraxia AR 208920
AGAT Deficiency AR 612718
Age-Related Macular Degeneration 5 613761
Age-Related Macular Degeneration 7 610149
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome AD 618929
AICAR Transformylase/Imp Cyclohydrolase Deficiency AR 608688
Aicardi-Goutieres Syndrome 1 AD 225750
Aicardi-Goutieres Syndrome 2 AR 610181
Aicardi-Goutieres Syndrome 3 AR 610329
Aicardi-Goutieres Syndrome 4 AR 610333
Aicardi-Goutieres Syndrome 5 AR 612952
Aicardi-Goutieres Syndrome 6 AR 615010
Aicardi-Goutieres Syndrome 7 AD 615846
Al Kaissi syndrome AR 617694
Al-Gazali-Bakalinova syndrome AR 607131
Alacrima, Achalasia, and Mental Retardation Syndrome AR 615510
Alcohol Dependence MF 103780
Alexander Disease AD 203450
Allan-Herndon-Dudley Syndrome XL 300523
Alopecia-mental retardation syndrome 4 AR 618840
Alpha-Methylacetoacetic Aciduria AR 203750
Alpha-Methylacyl-CoA Racemase Deficiency AR 614307
Alpha-Thalassemia Myelodysplasia Syndrome 300448
Alstrom Syndrome AR 203800
Alternating Hemiplegia Of Childhood AD 104290
Alternating Hemiplegia of Childhood 2 AD 614820
Aminoacylase 1 Deficiency AR 609924
Amish Infantile Epilepsy Syndrome AR 609056
Amish Lethal Microcephaly AR 607196
Aml - Acute Myeloid Leukemia 601626
Amyotrophic lateral sclerosis 5, juvenile AR 602099
Amyotrophic Lateral Sclerosis Type 11 AD 612577
Amyotrophic Lateral Sclerosis Type 14 613954
Andermann Syndrome AR 218000
Andersen Tawil Syndrome AD 170390
Anemia Sideroblastic And Spinocerebellar Ataxia XL 301310
Angelman Syndrome AD 105830
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps AD 611773
Aniridia 2 AD 617141
Aniridia, Cerebellar Ataxia, And Mental Retardation AD 206700
Antley-Bixler Syndrome AD 207410
Apert Syndrome AD 101200
Aplastic Anemia 609135
Arginase Deficiency AR 207800
Argininosuccinate Lyase Deficiency AR 207900
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 2 AD 600996
Arrhythmogenic right ventricular dysplasia, familial, 14 AD 618920
Arterial Calcification Of Infancy AR 208000
Arteriovenous Malformations Of The Brain 108010
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum AR 618766
Arthrogryposis multiplex congenita, neurogenic, with myelin defect AR 617468
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development AD 618265
Arthrogryposis, distal, type 2B3 (Sheldon-Hall) AD 618436
Arthrogryposis, Distal, Type 3 AD 114300
Arthrogryposis, Distal, Type 5 AD 108145
Arthrogryposis, Distal, Type 8 AD 178110
Arthrogryposis, Distal, with Impaired Proprioception and Touch AR 617146
Arthrogryposis, Mental Retardation, and Seizures AR 615553
Arts Syndrome XL 301835
Asparagine synthetase deficiency AR 615574
Aspartylglycosaminuria AR 208400
Asperger Syndrome, X-Linked, Susceptibility To, 1 XL 300494
Asperger Syndrome, X-Linked, Susceptibility To, 2 XL 300497
Ataxia-oculomotor apraxia 4 AR 616267
Athabaskan Brainstem Dysgenesis AR 601536
ATR-X Syndrome XL 301040
Atrial Fibrillation, Familial, 12 AD 614050
Atrial Fibrillation, Familial, 13 AD 615377
Atrial Fibrillation, Familial, 9 AD 613980
Atrial Myxoma, Familial AD 255960
Atrial septal defect 9 AD 614475
Atrioventricular Septal Defect AD 600309
Atrioventricular septal defect 5 AD 614474
Au-Kline syndrome AD 616580
Auditory neuropathy and optic atrophy AR 617717
Autism 15 612100
Autism 16 613410
Autism, Susceptibility to, 18 AD 615032
Autism, Susceptibility To, X-Linked 1 XL 300425
Autism, Susceptibility To, X-Linked 2 XL 300495
Autism, Susceptibility To, X-Linked 3 XL 300496
Autism, Susceptibility to, X-linked 4 XL 300830
Autism, Susceptibility To, X-Linked 5 300847
Autism, Susceptibility to, X-linked 6 XL 300872
Autosomal Recessive Cutis Laxa Type 3A AR 219150
Ayme-Gripp Syndrome AD 601088
Bainbridge-Ropers Syndrome AD 615485
Baker-Gordon syndrome AD 618218
Baller-Gerold Syndrome AR 218600
Band Heterotopia AR 600348
Baraitser-Winter Syndrome 1 AD 243310
Baraitser-Winter Syndrome 2 AD 614583
Barakat Syndrome AD 146255
Bardet-Biedl Syndrome 13 AR 615990
Bardet-Biedl Syndrome 14 AR 615991
Bardet-Biedl Syndrome 16 AR 615993
Bardet-Biedl Syndrome 17 AR 615994
Bartter Syndrome Antenatal Type 1 AR 601678
Bartter Syndrome Antenatal Type 2 AR 241200
Basal Cell Carcinoma, Multiple 605462
Basal Ganglia Calcification, Idiopathic, 4 AD 615007
Basal Ganglia Disease, Biotin-Responsive AR 607483
Basel-Vanagait-Smirin-Yosef Syndrome AR 616449
Basilicata-Akhtar syndrome XL 301032
Becker Muscular Dystrophy XL 300376
Beckwith-Wiedemann Syndrome AD 130650
Benign Familial Neonatal Seizures 1 AD 121200
Benign Familial Neonatal-Infantile Seizures AD 607745
Bent bone dysplasia syndrome AD 614592
Beta-D-Mannosidosis AR 248510
Beta-Hydroxyisobutyryl-CoA Deacylase Deficiency AR 250620
Beta-Ureidopropionase Deficiency AR 613161
Bile Acid Synthesis Defect, Congenital, 4 AR 214950
Bjornstad Syndrome AR 262000
Bladder Cancer 109800
Blepharophimosis-impaired intellectual development syndrome AD 619293
Bohring-Opitz Syndrome AD 605039
Borjeson-Forssman-Lehmann Syndrome XL 301900
Bosch-Boonstra-Schaaf optic atrophy syndrome AD 615722
Bosma arhinia microphthalmia syndrome AD 603457
Bowen-Conradi Syndrome AR 211180
Brain abnormalities, neurodegeneration, and dysosteosclerosis AR 618476
Brain malformations with or without urinary tract defects AD 613735
Brain small vessel disease 3 AR 618360
Branched-chain ketoacid dehydrogenase kinase deficiency 614923
Branchiooculofacial Syndrome AD 113620
Brugada Syndrome 3 611875
Brugada Syndrome 5 612838
Brugada Syndrome 8 613123
Brugada Syndrome 9 AD 616399
C Syndrome AD 211750
Camptodactyly, Tall Stature, And Hearing Loss Syndrome AD 610474
Capillary malformations, congenital, 1, somatic, mosaic 163000
CAPOS syndrome AD 601338
CARASIL Syndrome AR 600142
Carbohydrate-Deficient Glycoprotein Syndrome Type II AR 212066
Cardiac Valvular Dysplasia, X-Linked XL 314400
Cardiac, facial, and digital anomalies with developmental delay AD 618164
Cardio-Facio-Cutaneous Syndrome AD 115150
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1 AR 604377
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 2 AR 615119
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 3 AR 616500
Cardiofaciocutaneous syndrome 2 AD 615278
Cardiofaciocutaneous syndrome 3 AD 615279
Cardiofaciocutaneous syndrome 4 AD 615280
Cardiomyopathy, Dilated, 1gg AR 613642
Cardiomyopathy, dilated, 1NN AD 615916
Cardiomyopathy, Dilated, 3B XL 302045
Carney Complex, Type 1 AD 160980
Carnitine Palmitoyltransferase I Deficiency AR 255120
Carnitine Palmitoyltransferase II Deficiency, Infantile AR 600649
Carnitine Palmitoyltransferase II Deficiency, Late-Onset AD 255110
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal AR 608836
Carnitine-Acylcarnitine Translocase Deficiency AR 212138
Carotid Intimal Medial Thickness 1 609338
Cataract 21 AD 610202
Cataract 38 AR 614691
Cataract 41 AD 116400
Cataract 44 AR 616509
Cataracts, spastic paraparesis, and speech delay AD 619338
Catecholaminergic Polymorphic Ventricular Tachycardia, 1 AD 604772
Catel-Manzke Syndrome AR 616145
CEBALID syndrome AD 618774
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 AR 610185
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 AR 613227
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 AR 615268
Cerebellar ataxia, nonprogressive, with mental retardation AD 614756
Cerebellar atrophy with seizures and variable developmental delay AR 618501
Cerebellar atrophy, developmental delay, and seizures AR 617643
Cerebellar Atrophy, Vsual Impairment, and Psychomotor Retardation AR 616875
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay AR 213000
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 AD 616779
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy AD 125310
Cerebral Cavernous Malformations 1 AD 116860
Cerebral Cavernous Malformations 2 AD 603284
Cerebral Creatine Deficiency Syndrome 1 XL 300352
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome AR 609528
Cerebral Folate Deficiency AR 613068
Cerebral Palsy, Spastic Quadriplegic, 1 AR 603513
Cerebral Palsy, Spastic Quadriplegic, 2 612900
Cerebral palsy, spastic quadriplegic, 3 AR 617008
Cerebro-Oculo-Facio-Skeletal Syndrome AR 214150
Cerebrooculofacioskeletal Syndrome 2 AR 610756
Cerebrooculofacioskeletal syndrome 3 AR 616570
Cerebrooculofacioskeletal Syndrome 4 AR 610758
Cerebroretinal Microangiopathy with Calcifications and Cysts AR 612199
Cerebrotendinous Xanthomatosis AR 213700
Ceroid Lipofuscinosis Neuronal 1 AR 256730
Ceroid Lipofuscinosis Neuronal 10 AR 610127
Ceroid Lipofuscinosis Neuronal 11 AR 614706
Ceroid Lipofuscinosis Neuronal 12 AR 606693
Ceroid Lipofuscinosis Neuronal 13 AR 615362
Ceroid Lipofuscinosis Neuronal 14 AR 611726
Ceroid Lipofuscinosis Neuronal 2 AR 204500
Ceroid Lipofuscinosis Neuronal 3 AR 204200
Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive AR 204300
Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant AD 162350
Ceroid Lipofuscinosis Neuronal 5 AR 256731
Ceroid Lipofuscinosis Neuronal 6 AR 601780
Ceroid Lipofuscinosis Neuronal 7 AR 610951
Ceroid Lipofuscinosis Neuronal 8 AR 600143
Ceroid Lipofuscinosis Neuronal 8, Northern Epilepsy Variant AR 610003
Cervical Cancer 603956
Charcot-Marie-Tooth Disease Type 2B2 AR 605589
Charcot-Marie-Tooth disease, axonal, type 2DD AD 618036
Charcot-Marie-Tooth disease, axonal, type 2EE AR 618400
Charcot-Marie-Tooth Disease, Axonal, Type 2O AD 614228
Charcot-Marie-Tooth disease, axonal, type 2V AD 616491
Charcot-Marie-Tooth disease, axonal, type 2X AR 616668
Charcot-Marie-Tooth disease, axonal, type 2Z AD 616688
Charcot-Marie-Tooth Disease, Recessive Intermediate B AR 613641
Charcot-Marie-Tooth Disease, Type 2Q AD 615025
Charcot-Marie-Tooth Disease, Type 2Y AD 616687
Charcot-Marie-Tooth Disease, Type 4J AR 611228
Charcot-Marie-Tooth Disease, Type 4K AR 616684
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 XL 311070
CHARGE Association AD 214800
Chediak-Higashi Syndrome AR 214500
Chilblain lupus 2 AD 614415
Chilblain Lupus Erythematosus AD 610448
Child Syndrome XL 308050
Childhood Hypophosphatasia AR 241510
CHIME syndrome AR 280000
Chitayat Syndrome AD 617180
Chondrocalcinosis 2 AD 118600
Chondrodysplasia Punctata 2 X-Linked Dominant XL 302960
Chondrodysplasia with Joint Dislocations, Gpapp Type AR 614078
Chopra-Amiel-Gordon syndrome AD 619504
Choreoacanthocytosis AR 200150
Chromosome 9Q Deletion Syndrome AD 610253
Chronic Infantile Neurological, Cutaneous And Articular Syndrome AD 607115
Chudley-McCullough syndrome AR 604213
CIMDAG syndrome AD 619273
Citrullinemia Type I AR 215700
CK syndrome XL 300831
CLAPO syndrome, somatic 613089
Cleft palate, cardiac defects, and mental retardation AD 600987
CLOVE syndrome, somatic 612918
COACH Syndrome AR 216360
COACH syndrome 2 619111
COACH syndrome 3 619113
Cockayne Syndrome Type I AR 216400
Cockayne Syndrome, Type B AR 133540
CODAS syndrome AR 600373
Coenzyme Q10 Deficiency AR 607426
Coenzyme Q10 Deficiency, Primary, 2 AR 614651
Coenzyme Q10 deficiency, primary, 3 AR 614652
Coenzyme Q10 Deficiency, Primary, 4 AR 612016
Coenzyme Q10 Deficiency, Primary, 5 AR 614654
Coenzyme Q10 deficiency, primary, 6 AR 614650
Coenzyme Q10 Deficiency, Primary, 7 AR 616276
Coenzyme Q10 deficiency, primary, 9 AR 619028
Coffin-Lowry Syndrome XL 303600
Coffin-Siris Syndrome 1 AD 135900
Coffin-Siris Syndrome 2 AD 614607
Coffin-Siris Syndrome 3 AD 614608
Coffin-Siris Syndrome 4 AD 614609
Coffin-Siris Syndrome 5 AD 616938
Coffin-Siris syndrome 6 AD 617808
Coffin-Siris syndrome 8 AD 618362
Cognitive Impairment With Or Without Cerebellar Ataxia AD 614306
Cohen Syndrome AR 216550
Cold-Induced Sweating Syndrome 1 AR 272430
Cold-Induced Sweating Syndrome 2 AR 610313
Cold-Induced Sweating Syndrome 3 AR 617055
Cole Disease AD 615522
Cole-Carpenter Syndrome 2 AR 616294
Coloboma Of Optic Disc AD 120430
Coloboma, Ocular AD 120200
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation AD 120433
Combined D-2- and L-2-HydroxyGlutaric Aciduria AR 615182
Combined Malonic And Methylmalonic Aciduria 614265
Combined Oxidative Phosphorylation Deficiency 1 AR 609060
Combined Oxidative Phosphorylation Deficiency 10 AR 614702
Combined Oxidative Phosphorylation Deficiency 11 AR 614922
Combined Oxidative Phosphorylation Deficiency 12 AR 614924
Combined Oxidative Phosphorylation Deficiency 13 AR 614932
Combined oxidative phosphorylation deficiency 14 AR 614946
Combined Oxidative Phosphorylation Deficiency 15 AR 614947
Combined Oxidative Phosphorylation Deficiency 17 AR 615440
Combined Oxidative Phosphorylation Deficiency 18 AR 615578
Combined Oxidative Phosphorylation Deficiency 22 AR 616045
Combined Oxidative Phosphorylation Deficiency 23 AR 616198
Combined Oxidative Phosphorylation Deficiency 24 AR 616239
Combined Oxidative Phosphorylation Deficiency 25 AR 616430
Combined Oxidative Phosphorylation Deficiency 27 AR 616672
Combined Oxidative Phosphorylation Deficiency 3 AR 610505
Combined oxidative phosphorylation deficiency 31 AR 617228
Combined Oxidative Phosphorylation Deficiency 35 AR 617873
Combined oxidative phosphorylation deficiency 39 AR 618397
Combined oxidative phosphorylation deficiency 44 AR 618855
Combined Oxidative Phosphorylation Deficiency 5 AR 611719
Combined oxidative phosphorylation deficiency 53 AR 619423
Combined Oxidative Phosphorylation Deficiency 6 XL 300816
Combined Saposin Deficiency AR 611721
Congenital Aniridia AD 106210
Congenital Anomalies of Kidney and Urinary Tract 2 AD 143400
Congenital Anomalies of Kidney and Urinary Tract Syndrome with or without Hearing Loss, Abnormal Ears, or Developmental Delay AD 617641
Congenital Cataracts, Hearing Loss, and Neurodegeneration AR 614482
Congenital Central Hypoventilation syndrome AD 209880
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay AD 616266
Congenital Disorder of Deglycosylation AR 615273
Congenital Disorder Of Glycosylation Type 1A AR 212065
Congenital Disorder Of Glycosylation Type 1C AR 603147
Congenital Disorder Of Glycosylation Type 1D AR 601110
Congenital Disorder Of Glycosylation Type 1E AR 608799
Congenital Disorder Of Glycosylation Type 1F AR 609180
Congenital Disorder Of Glycosylation Type 1G AR 607143
Congenital Disorder Of Glycosylation Type 1H AR 608104
Congenital Disorder Of Glycosylation Type 1I AR 607906
Congenital Disorder Of Glycosylation Type 1J AR 608093
Congenital Disorder Of Glycosylation Type 1K AR 608540
Congenital Disorder Of Glycosylation Type 1L AR 608776
Congenital Disorder Of Glycosylation Type 1M AR 610768
Congenital Disorder Of Glycosylation Type 1P AR 613661
Congenital Disorder Of Glycosylation Type 1Q AR 612379
Congenital Disorder Of Glycosylation Type 2C AR 266265
Congenital Disorder Of Glycosylation Type 2D AR 607091
Congenital Disorder Of Glycosylation Type 2E AR 608779
Congenital Disorder Of Glycosylation Type 2F AR 603585
Congenital Disorder Of Glycosylation Type 2G AR 611209
Congenital Disorder Of Glycosylation Type 2I AR 613612
Congenital Disorder Of Glycosylation Type IIb AR 606056
Congenital Disorder Of Glycosylation Type IIh 611182
Congenital Disorder Of Glycosylation Type IIj AR 613489
Congenital Disorder of Glycosylation Type IIk AR 614727
Congenital Disorder of Glycosylation Type IIl AR 614576
Congenital Disorder of Glycosylation Type IIm XL 300896
Congenital Disorder of Glycosylation Type IIn AR 616721
Congenital Disorder of Glycosylation Type IIo AR 616828
Congenital Disorder Of Glycosylation Type In AR 612015
Congenital Disorder of Glycosylation Type Ir AR 614507
Congenital Disorder of Glycosylation Type Iu AR 615042
Congenital Disorder of Glycosylation Type Iw AR 615596
Congenital Disorder of Glycosylation Type Ix AR 615597
Congenital Disorder of Glycosylation Type Iy XL 300934
Congenital disorder of glycosylation with defective fucosylation 1 AR 618005
Congenital disorder of glycosylation, type 1aa AR 617082
Congenital disorder of glycosylation, type IIr XL 301045
Congenital disorder of glycosylation, type IIt AR 618885
Congenital Generalized Lipodystrophy Type 2 AR 269700
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder AD 617360
Congenital Hyperammonemia, Type I AR 237300
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies AD 618494
Congenital Muscular Dystrophy-Dystroglycanopathy (With Brain And Eye Anomalies) Type A5 AR 613153
Congenital Muscular Dystrophy-Dystroglycanopathy (With Or Without Mental Retardation) Type 5B AR 606612
Conotruncal Heart Malformations 217095
Contractures, pterygia, and variable skeletal fusions syndrome 1B AR 618469
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis AD 602066
Corneal dystrophy, Fuchs endothelial, 3 AD 613267
Cornelia de Lange syndrome 1 AD 122470
Cornelia de Lange syndrome 2 XL 300590
Cornelia de Lange syndrome 3 AD 610759
Cornelia de Lange syndrome 4 AD 614701
Cornelia de Lange syndrome 5 XL 300882
Corpus Callosum, Partial Agenesis Of, X-Linked XL 304100
Cortical Dysplasia, Complex, With Other Brain Malformations AD 614039
Cortical dysplasia, complex, with other brain malformations 10 AR 618677
Cortical dysplasia, complex, with other brain malformations 2 AD 615282
Cortical dysplasia, complex, with other brain malformations 3 AD 615411
Cortical Dysplasia, Complex, with other Brain Malformations 4 AD 615412
Cortical Dysplasia, Complex, with other Brain Malformations 5 AD 615763
Cortical dysplasia, complex, with other brain malformations 6 AD 615771
Cortical dysplasia, complex, with other brain malformations 9 AR 618174
Cortical Dysplasia-Focal Epilepsy Syndrome AR 610042
Cortical Malformations, Occipital AR 614115
Costello Syndrome AD 218040
Cowchock Syndrome XL 310490
Cowden Disease AD 158350
Cowden syndrome 5 615108
Cowden syndrome 6 615109
Cranioectodermal Dysplasia 4 AR 614378
Craniometaphyseal Dysplasia, Autosomal Dominant AD 123000
Craniometaphyseal dysplasia, autosomal recessive AR 218400
Craniosynostosis 4 AD 600775
Craniosynostosis 5, Susceptibility to AD 615529
Craniosynostosis, Type 1 AD 123100
Craniosynostosis, Type 2 AD 604757
Crouzon Syndrome AD 123500
Crouzon Syndrome With Acanthosis Nigricans AD 612247
Culler-Jones Syndrome AD 615849
Cutaneous Malignant Melanoma 1 155600
Cutaneous Telangiectasia and Cancer Syndrome, Familial AD 614564
Cutis Gyrata Syndrome Of Beare And Stevenson AD 123790
Cutis Laxa, Autosomal Dominant 3 AD 616603
Cutis Laxa, Autosomal Recessive, Type IIA AR 219200
Cutis Laxa, Autosomal Recessive, Type IID AR 617403
D-2-Alpha Hydroxyglutaric Aciduria AR 600721
D-2-Hydroxyglutaric Aciduria 2 613657
D-Bifunctional Protein Deficiency AR 261515
De Sanctis-Cacchione Syndrome AR 278800
Deafness , autosomal recessive 86 AR 614617
Deafness, Autosomal Dominant 1 AD 124900
Deafness, Autosomal Dominant 20 AD 604717
Deafness, autosomal dominant 34, with or without inflammation AD 617772
Deafness, Autosomal Dominant 6 AD 600965
Deafness, autosomal dominant 65 AD 616044
Deafness, autosomal dominant 71 AD 617605
Deafness, autosomal dominant 75 AD 618778
Deafness, autosomal recessive 119 AR 619615
Deafness, autosomal recessive 70 AR 614934
Deafness, autosomal recessive 89 AR 613916
Deafness, autosomal recessive 94 AR 618434
Deafness, congenital, and adult-onset progressive leukoencephalopathy AR 619196
Deafness, congenital, with onychodystrophy, autosomal dominant AD 124480
Deafness, Dystonia, and Cerebral Hypomyelination XL 300475
Deafness, X-Linked 1 XL 304500
Deafness, X-Linked 5 XL 300614
DEEAH syndrome AR 619004
Deficiency Of 3-Hydroxyacyl-CoA Dehydrogenase AR 231530
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase AR 608643
Deficiency Of Butyryl-CoA Dehydrogenase AR 201470
Deficiency Of Glycerate Kinase AR 220120
Deficiency Of Guanidinoacetate Methyltransferase AR 612736
Deficiency Of Pyrroline-5-Carboxylate Reductase AR 239510
Deficiency Of Ribose-5-Phosphate Isomerase AR 608611
Dent Disease 2 XL 300555
Dentatorubral Pallidoluysian Atrophy AD 125370
Desanto-Shinawi syndrome AD 616708
Desmosterolosis AR 602398
Developmental and Epileptic Encephalopathy 4 AD 612164
Developmental and epileptic encephalopathy 6B, non-Dravet AD 619317
Developmental and epileptic encephalopathy 79 AD 618559
Developmental and epileptic encephalopathy 84 AR 618792
Developmental and epileptic encephalopathy 87 AD 618916
Developmental and epileptic encephalopathy 89 AR 619124
Developmental and epileptic encephalopathy 90 XL 301058
Developmental and epileptic encephalopathy 98 AD 619605
Developmental and epileptic encephalopathy 99 AD 619606
Developmental Delay and Seizures with or without Movement Abnormalities AD 617836
Developmental delay with dysmorphic facies and dental anomalies AD 619228
Developmental delay with or without dysmorphic facies and autism AD 618454
Developmental delay with or without intellectual impairment or behavioral abnormalities AD 619575
Developmental delay with short stature, dysmorphic facial features, and sparse hair AR 616901
Developmental delay with variable intellectual impairment and behavioral abnormalities AD 618430
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities AD 619595
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy AD 619090
Diabetes Insipidus, Nephrogenic, Autosomal AD 125800
Diabetes Insipidus, Nephrogenic, X-Linked XL 304800
Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness AR 222300
Diabetes Mellitus, Insulin-Dependent, 2 AD 125852
Diabetes Mellitus, Noninsulin-Dependent AD 125853
Diabetes Mellitus, Noninsulin-Dependent, 1 601283
Diabetes mellitus, permanent neonatal AD 618858
Diabetes mellitus, permanent neonatal 3, with or without neurologic features AD 618857
Diabetes, permanent neonatal 2, with or without neurologic features AD 618856
Dias-Logan Syndrome AD 617101
Dicarboxylic Aminoaciduria AR 222730
Diets-Jongmans syndrome AD 618846
Digeorge Sequence AD 188400
Dihydrolipoamide dehydrogenase deficiency AR 246900
Dihydropteridine Reductase Deficiency AR 261630
Dihydropyrimidinase Deficiency AR 222748
Dihydropyrimidine Dehydrogenase Deficiency AR 274270
Dilated Cardiomyopathy 1O AD 608569
Dilated Cardiomyopathy 1X AR 611615
Donnai Barrow Syndrome AR 222448