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Comprehensive Ocular Disorders Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
12005 ABCA4 81408,81479 Order Options and Pricing
ABCB6 81479,81479
ABCC6 81479,81479
ABCD1 81405,81479
ABHD12 81479,81479
ACBD5 81479,81479
ACO2 81479,81479
ADAM9 81479,81479
ADAMTS10 81479,81479
ADAMTS18 81479,81479
ADGRA3 81479,81479
ADGRV1 81479,81479
ADIPOR1 81479,81479
AGBL1 81479,81479
AGBL5 81479,81479
AGK 81479,81479
AGPS 81479,81479
AHI1 81407,81479
AIPL1 81479,81479
ALDH18A1 81479,81479
ALDH1A3 81479,81479
ALMS1 81479,81479
ALPL 81479,81479
AMACR 81479,81479
ANKS6 81479,81479
AP3B1 81479,81479
ARL13B 81479,81479
ARL2BP 81479,81479
ARL3 81479,81479
ARL6 81479,81479
ASB10 81479,81479
ASPH 81479,81479
ASRGL1 81479,81479
ATF6 81479,81479
ATOH7 81479,81479
ATP13A2 81479,81479
B3GALNT2 81479,81479
B3GLCT 81479,81479
B4GAT1 81479,81479
B9D1 81479,81479
B9D2 81479,81479
BBIP1 81479,81479
BBS1 81406,81479
BBS10 81404,81479
BBS12 81479,81479
BBS2 81406,81479
BBS4 81479,81479
BBS5 81479,81479
BBS7 81479,81479
BBS9 81479,81479
BCOR 81479,81479
BEST1 81406,81479
BFSP1 81479,81479
BFSP2 81479,81479
BLOC1S3 81479,81479
BLOC1S6 81479,81479
BMP4 81479,81479
BMP7 81479,81479
BUB1B 81479,81479
C12orf57 81479,81479
C1QTNF5 81479,81479
C2 81479,81479
C3 81479,81479
CA4 81479,81479
CABP4 81479,81479
CACNA1A 81185,81479
CACNA1F 81479,81479
CACNA2D4 81479,81479
CANT1 81479,81479
CAPN15 81479,81479
CAPN5 81479,81479
CASK 81479,81479
CC2D2A 81479,81479
CCDC103 81479,81479
CCDC28B 81479,81479
CCDC39 81479,81479
CCDC40 81479,81479
CDH23 81408,81479
CDH3 81479,81479
CDHR1 81479,81479
CDKN2A 81404,81479
CEP164 81479,81479
CEP250 81479,81479
CEP290 81408,81479
CEP41 81479,81479
CEP78 81479,81479
CERKL 81479,81479
CFAP410 81479,81479
CFAP418 81479,81479
CFB 81479,81479
CFH 81479,81479
CHD7 81407,81479
CHM 81479,81479
CHMP4B 81479,81479
CHN1 81479,81479
CHRDL1 81479,81479
CHST6 81479,81479
CIB2 81479,81479
CISD2 81479,81479
CLDN19 81479,81479
CLN3 81479,81479
CLN5 81479,81479
CLN6 81479,81479
CLN8 81479,81479
CLRN1 81404,81479
CLUAP1 81479,81479
CNGA1 81479,81479
CNGA3 81479,81479
CNGB1 81479,81479
CNGB3 81479,81479
CNNM4 81479,81479
COL11A1 81479,81479
COL11A2 81479,81479
COL18A1 81479,81479
COL2A1 81479,81479
COL4A1 81408,81479
COL4A2 81479,81479
COL4A3 81408,81479
COL4A4 81407,81479
COL4A5 81408,81407
COL8A2 81479,81479
COL9A1 81479,81479
COL9A2 81479,81479
COX7B 81479,81479
CPAMD8 81479,81479
CPLANE1 81479,81479
CRB1 81406,81479
CRELD1 81479,81479
CRIM1 81479,81479
CRPPA 81405,81479
CRX 81404,81479
CRYAA 81479,81479
CRYAB 81479,81479
CRYBA1 81479,81479
CRYBA2 81479,81479
CRYBA4 81479,81479
CRYBB1 81479,81479
CRYBB2 81479,81479
CRYBB3 81479,81479
CRYGA 81479,81479
CRYGB 81479,81479
CRYGC 81479,81479
CRYGD 81479,81479
CRYGS 81479,81479
CSPP1 81479,81479
CTDP1 81479,81479
CTNNA1 81479,81479
CTNNB1 81479,81479
CTSD 81479,81479
CTSF 81479,81479
CWC27 81479,81479
CYP1B1 81404,81479
CYP27A1 81479,81479
CYP4V2 81479,81479
DCN 81479,81479
DGKQ 81479,81479
DHCR7 81405,81479
DHDDS 81479,81479
DHX38 81479,81479
DNAAF1 81479,81479
DNAAF11 81479,81479
DNAAF2 81479,81479
DNAAF3 81479,81479
DNAAF5 81479,81479
DNAH11 81479,81479
DNAH5 81479,81479
DNAI1 81479,81479
DNAI2 81479,81479
DNAJC17 81479,81479
DNAJC5 81479,81479
DNAL1 81479,81479
DRAM2 81479,81479
DTHD1 81479,81479
DTNBP1 81479,81479
DYNC2H1 81479,81479
EDN3 81479,81479
EDNRB 81479,81479
EFEMP1 81479,81479
ELOVL4 81479,81479
ELP4 81479,81479
EMC1 81479,81479
EPG5 81479,81479
EPHA2 81479,81479
ERCC1 81479,81479
ERCC2 81479,81479
ERCC5 81479,81479
ERCC6 81479,81479
ERCC8 81479,81479
ESCO2 81479,81479
EVC 81479,81479
EVC2 81479,81479
EXOSC2 81479,81479
EYA1 81406,81405
EYS 81479,81479
FAH 81406,81479
FAM126A 81479,81479
FAM161A 81479,81479
FBLN5 81479,81479
FBN1 81408,81479
FKRP 81404,81479
FKTN 81405,81479
FLNB 81479,81479
FLVCR1 81479,81479
FOXC1 81479,81479
FOXC2 81479,81479
FOXE3 81479,81479
FOXL2 81479,81479
FRAS1 81479,81479
FREM1 81479,81479
FREM2 81479,81479
FRMD7 81479,81479
FSCN2 81479,81479
FTL 81479,81479
FYCO1 81479,81479
FZD4 81479,81479
GALE 81479,81479
GALK1 81479,81479
GCNT2 81479,81479
GDF1 81479,81479
GDF3 81479,81479
GDF6 81479,81479
GJA1 81479,81479
GJA3 81479,81479
GJA8 81479,81479
GJB2 81252,81479
GJB6 81479,81479
GJC3 81479,81479
GLA 81405,81479
GLIS2 81479,81479
GMPPB 81479,81479
GNAT1 81479,81479
GNAT2 81479,81479
GNB3 81479,81479
GNPAT 81479,81479
GNPTG 81479,81479
GNS 81479,81479
GPR143 81479,81479
GPR160 81479,81479
GPR179 81479,81479
GRHL2 81479,81479
GRIP1 81479,81479
GRK1 81479,81479
GRM6 81479,81479
GRN 81406,81479
GSN 81479,81479
GUCA1A 81479,81479
GUCA1B 81479,81479
GUCY2D 81479,81479
HADHA 81406,81479
HADHB 81406,81479
HARS1 81479,81479
HCCS 81479,81479
HCN1 81479,81479
HESX1 81479,81479
HGSNAT 81479,81479
HK1 81479,81479
HMCN1 81479,81479
HMGB3 81479,81479
HMX1 81479,81479
HPS1 81479,81479
HPS3 81479,81479
HPS4 81479,81479
HPS5 81479,81479
HPS6 81479,81479
HSF4 81479,81479
HTRA1 81405,81479
HYLS1 81479,81479
IDH3B 81479,81479
IDUA 81406,81479
IFT140 81479,81479
IFT172 81479,81479
IFT27 81479,81479
IFT43 81479,81479
IFT80 81479,81479
IFT81 81479,81479
IFT88 81479,81479
IMPDH1 81479,81479
IMPG1 81479,81479
IMPG2 81479,81479
INPP5B 81479,81479
INPP5E 81479,81479
INVS 81479,81479
IQCB1 81479,81479
ITM2B 81479,81479
JAG1 81407,81406
JAM3 81479,81479
KCNJ13 81479,81479
KCNV2 81479,81479
KCTD7 81479,81479
KERA 81479,81479
KIAA1549 81479,81479
KIF11 81479,81479
KIF7 81479,81479
KIZ 81479,81479
KLHL7 81479,81479
KRT12 81479,81479
KRT3 81479,81479
LAMA1 81479,81479
LAMB1 81479,81479
LAMB2 81407,81479
LARGE1 81479,81479
LCA5 81479,81479
LCAT 81479,81479
LCT 81479,81479
LEFTY2 81479,81479
LENG8 81479,81479
LIM2 81479,81479
LMX1B 81479,81479
LRAT 81479,81479
LRIT3 81479,81479
LRMDA 81479,81479
LRP5 81406,81479
LTBP2 81479,81479
LTBP3 81479,81479
LYST 81479,81479
LZTFL1 81479,81479
MAB21L1 81479,81479
MAB21L2 81479,81479
MAF 81479,81479
MAK 81479,81479
MAN2B1 81479,81479
MAPKAPK3 81479,81479
MECR 81479,81479
MEIS1 81479,81479
MERTK 81479,81479
MFN2 81406,81479
MFRP 81479,81479
MFSD8 81479,81479
MIP 81479,81479
MIPEP 81479,81479
MIR184 81479,81479
MIR204 81479,81479
MITF 81479,81479
MKKS 81479,81479
MKS1 81479,81479
MLPH 81479,81479
MMACHC 81404,81479
MMP1 81479,81479
MTRFR 81479,81479
MTTP 81479,81479
MVK 81479,81479
MXRA8 81479,81479
MYH9 81479,81479
MYO5A 81479,81479
MYO7A 81407,81479
MYOC 81479,81479
NAA10 81479,81479
NBAS 81479,81479
NDP 81404,81403
NDUFA1 81404,81479
NECTIN2 81479,81479
NEK1 81479,81479
NEK2 81479,81479
NEK8 81479,81479
NEUROD1 81479,81479
NF2 81479,81479
NHS 81479,81479
NKX2-5 81479,81479
NME8 81479,81479
NMNAT1 81479,81479
NODAL 81479,81479
NOTCH2 81479,81479
NPHP1 81406,81405
NPHP3 81479,81479
NPHP4 81479,81479
NR2E3 81479,81479
NR2F1 81479,81479
NRL 81479,81479
NTF4 81479,81479
NXNL1 81479,81479
NYX 81479,81479
OAT 81479,81479
OCA2 81479,81479
OCRL 81479,81479
ODAD1 81479,81479
OFD1 81479,81479
OPA1 81407,81406
OPA3 81479,81479
OPTN 81406,81479
OTX2 81479,81479
OVOL2 81479,81479
P3H2 81479,81479
PANK2 81479,81479
PAX2 81406,81479
PAX3 81479,81479
PAX6 81479,81479
PCARE 81479,81479
PCDH15 81407,81406
PCYT1A 81479,81479
PDE6A 81479,81479
PDE6B 81479,81479
PDE6C 81479,81479
PDE6D 81479,81479
PDE6G 81479,81479
PDE6H 81479,81479
PDZD7 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
PGK1 81479,81479
PHYH 81479,81479
PIKFYVE 81479,81479
PITPNM3 81479,81479
PITX2 81479,81479
PITX3 81479,81479
PLA2G5 81479,81479
PLD1 81479,81479
PLD3 81479,81479
PLK4 81479,81479
PNPLA6 81479,81479
POC1B 81479,81479
POMGNT1 81406,81479
POMGNT2 81479,81479
POMK 81479,81479
POMT1 81406,81479
POMT2 81406,81479
PON2 81479,81479
PPT1 81479,81479
PQBP1 81405,81404
PRCD 81479,81479
PRDM13 81479,81479
PRDM5 81479,81479
PROM1 81479,81479
PRPF3 81479,81479
PRPF31 81479,81479
PRPF4 81479,81479
PRPF6 81479,81479
PRPF8 81479,81479
PRPH2 81404,81479
PRPS1 81479,81479
PRSS56 81479,81479
PRX 81405,81479
PTCH1 81479,81479
PXDN 81479,81479
RAB18 81479,81479
RAB27A 81479,81479
RAB28 81479,81479
RAB3GAP1 81479,81479
RAB3GAP2 81479,81479
RARB 81479,81479
RAX 81479,81479
RAX2 81479,81479
RBP3 81479,81479
RBP4 81479,81479
RCBTB1 81479,81479
RD3 81479,81479
RDH11 81479,81479
RDH12 81479,81479
RDH5 81479,81479
RECQL4 81479,81479
REEP6 81479,81479
RGR 81479,81479
RGS9 81479,81479
RGS9BP 81479,81479
RHO 81404,81479
RHOBTB2 81479,81479
RIMS1 81479,81479
RLBP1 81479,81479
ROM1 81479,81479
RP1 81404,81479
RP1L1 81479,81479
RP2 81479,81479
RP9 81479,81479
RPE65 81406,81479
RPGR 81479,81479
RPGRIP1 81479,81479
RPGRIP1L 81479,81479
RPS19 81405,81479
RRM2B 81405,81479
RS1 81479,81479
RSPH4A 81479,81479
RSPH9 81479,81479
RTN4IP1 81479,81479
SAG 81479,81479
SALL2 81479,81479
SBF2 81479,81479
SC5D 81479,81479
SCARF2 81479,81479
SDCCAG8 81479,81479
SEC23A 81479,81479
SEMA3A 81479,81479
SEMA4A 81479,81479
SH3PXD2B 81479,81479
SHH 81479,81479
SIL1 81405,81479
SIPA1L3 81479,81479
SIX3 81479,81479
SIX5 81479,81479
SIX6 81479,81479
SLC16A12 81479,81479
SLC24A1 81479,81479
SLC24A5 81479,81479
SLC25A1 81479,81479
SLC25A13 81479,81479
SLC25A40 81479,81479
SLC25A46 81479,81479
SLC2A1 81405,81479
SLC33A1 81479,81479
SLC38A8 81479,81479
SLC45A2 81479,81479
SLC4A4 81479,81479
SLC7A14 81479,81479
SMCHD1 81479,81479
SMOC1 81479,81479
SNAI2 81479,81479
SNRNP200 81479,81479
SOX1 81479,81479
SOX10 81479,81479
SOX2 81479,81479
SOX3 81479,81479
SPATA7 81479,81479
SPINT2 81479,81479
SPP2 81479,81479
SRD5A3 81479,81479
SREBF2 81479,81479
STRA6 81479,81479
TACR1 81479,81479
TBC1D20 81479,81479
TBK1 81479,81479
TCTN1 81479,81479
TCTN2 81479,81479
TCTN3 81479,81479
TDRD7 81479,81479
TEAD1 81479,81479
TEK 81479,81479
TENM1 81479,81479
TENM3 81479,81479
TFAP2A 81479,81479
TIMM8A 81479,81479
TIMP3 81479,81479
TMEM114 81479,81479
TMEM126A 81479,81479
TMEM138 81479,81479
TMEM216 81479,81479
TMEM231 81479,81479
TMEM237 81479,81479
TMEM67 81407,81479
TMEM98 81479,81479
TOPORS 81479,81479
TPP1 81479,81479
TRAPPC6A 81479,81479
TREX1 81479,81479
TRIM32 81479,81479
TRNT1 81479,81479
TRPM1 81479,81479
TSPAN12 81479,81479
TTC21B 81479,81479
TTC8 81479,81479
TTLL5 81479,81479
TTPA 81404,81479
TTR 81404,81479
TUB 81479,81479
TUBGCP4 81479,81479
TUBGCP6 81479,81479
TULP1 81479,81479
TYR 81404,81479
TYRP1 81479,81479
UNC119 81479,81479
UPF3B 81479,81479
USH1C 81407,81479
USH1G 81404,81479
USH2A 81408,81479
VAX1 81479,81479
VCAN 81479,81479
VIM 81479,81479
VPS13B 81408,81407
VSX1 81479,81479
VSX2 81479,81479
WDPCP 81479,81479
WDR19 81479,81479
WDR35 81479,81479
WDR36 81479,81479
WDR37 81479,81479
WFS1 81479,81479
WHRN 81479,81479
XPNPEP3 81479,81479
ZEB1 81479,81479
ZEB2 81405,81404
ZIC2 81479,81479
ZIC3 81479,81479
ZNF408 81479,81479
ZNF423 81479,81479
ZNF513 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
12005Genes x (594)81479 81185(x1), 81252(x1), 81403(x1), 81404(x18), 81405(x15), 81406(x22), 81407(x12), 81408(x9), 81479(x1109) $1190 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

  • Dana Talsness, PhD

Clinical Features and Genetics

Clinical Features

The Comprehensive Ocular Disorders Panel is designed to cover all known forms of inherited eye-related disease. Ocular disorders can be subdivided into two broad categories based on the anatomy of the eye: anterior segment dysgenesis disorders (ASDD) and inherited retinal disorders (IRD).

ASDDs are characterized by abnormalities of the iris, cornea, lens, and trabecular meshwork which can result in the clinical features of aniridia, cataracts, and glaucoma (Ito and Walter. 2014. PubMed ID: 24433355). ASDDs can be both non-syndromic and syndromic (Axenfeld-Rieger, Peters Plus, Alagille, etc.). General abnormalities of the anterior segment can be very common in the population, and approximately 50% of all ASDD cases will develop glaucoma (Alward. 2000. PubMed ID: 11004268).

IRDs are characterized by the progressive loss of photoreceptors in the retina. Approximately 50% of IRDs are clinically defined as retinitis pigmentosa (RP). The clinical features of RP follow the progressive pattern of nyctalopia (night blindness), then peripheral visual field loss (tunnel vision), and finally central vision loss and blindness (Fahim et al. 2017. PubMed ID: 20301590). IRDs can be both non-syndromic and syndromic (Usher, Bardet-Biedl, Alstrom etc.). IRDs are a leading cause of blindness with an estimated incidence of 1 in 1,000-3,000 (Hanany et al. 2020. PubMed ID: 31964843).

Both ASDD and IRD are clinically heterogeneous in disease severity and age of onset. Additionally, genetically distinct eye disorders can often present with overlapping clinical features, making it difficult to diagnose a patient based solely on clinical observations. The Comprehensive Ocular Disorders Panel has the advantage of testing all genes associated with eye disorders for patients with broad or non-specific ocular phenotypes. A molecular diagnosis can guide treatment including emerging gene therapies (Martinez Velazquez and Ballios. 2021. PubMed ID: 34768969; Patel et al. 2018. PubMed ID: 30855774).

Genetics

This panel includes ~600 genes that have been associated with ocular disorders. Variants in these genes cause disease through all modes of inheritance including autosomal dominant, autosomal recessive, and X-linked. Molecular diagnosis in patients can be further complicated by variable expressivity, incomplete penetrance, and genetic modifiers.

The most common genes involved in anterior segment dysgenesis include PAX6, FOXC1, and PITX2 (Ito and Walter. 2014. PubMed ID: 24433355). The most common genes involved in inherited retinal disorders include PRPH2, ABCA4, RS1, RHO, USH2A, RPGR, and MYO7A (Perea-Romero et al. 2021. PubMed ID: 33452396). However, there are many genes that cause eye disorders in a very small percentage of cases.

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

Clinical Sensitivity - Sequencing with CNV PGxome

A study testing for 429 genes (referred to as the oculome) in a large cohort of patients with undiagnosed eye disorders found a definitive diagnosis in ~25% of cases (Patel et al. 2019. PubMed ID: 30653986). Another large cohort study of the eyeGENE network, an initiative of the NIH, found that a pathogenic or likely pathogenic variant was found in 62% of patients with a clinically diagnosed eye disorder (Goetz et al. 2020. PubMed ID: 32893963). These positive results were most commonly identified in ABCA4, USH2A, RPGR, and CHM; however, all together there were ~200 genes identified as diagnostic in the cohort, highlighting the genetically heterogeneous nature of eye disorders. This study also estimated that after genetic testing over 1,000 of the patients qualified to participate in one of the many clinical trials that are ongoing for treatment of eye disorders.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.3% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Please note that this test no longer covers the purine-rich region of RPGR ORF15, which requires special-chemistry Sanger sequencing. Our X-linked Retinitis Pigmentosa (XLRP) and Choroideremia Panel that includes sequencing of ORF15 is recommended for patients with a strong indication for a diagnosis in RPGR (X-linked inheritance, retinitis pigmentosa phenotype).
 

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

Patients with a broad clinical diagnosis or with overlapping symptoms of many ocular disorders have a good indication for this comprehensive test. Both patients with isolated eye phenotypes as well as patients with multi-systemic symptoms that include an eye phenotype are good candidates.

Genes

Official Gene Symbol OMIM ID
ABCA4 601691
ABCB6 605452
ABCC6 603234
ABCD1 300371
ABHD12 613599
ACBD5 616618
ACO2 100850
ADAM9 602713
ADAMTS10 608990
ADAMTS18 607512
ADGRA3 612303
ADGRV1 602851
ADIPOR1 607945
AGBL1 615496
AGBL5 615900
AGK 610345
AGPS 603051
AHI1 608894
AIPL1 604392
ALDH18A1 138250
ALDH1A3 600463
ALMS1 606844
ALPL 171760
AMACR 604489
ANKS6 615370
AP3B1 603401
ARL13B 608922
ARL2BP 615407
ARL3 604695
ARL6 608845
ASB10 615054
ASPH 600582
ASRGL1 609212
ATF6 605537
ATOH7 609875
ATP13A2 610513
B3GALNT2 610194
B3GLCT 610308
B4GAT1 605517
B9D1 614144
B9D2 611951
BBIP1 613605
BBS1 209901
BBS10 610148
BBS12 610683
BBS2 606151
BBS4 600374
BBS5 603650
BBS7 607590
BBS9 607968
BCOR 300485
BEST1 607854
BFSP1 603307
BFSP2 603212
BLOC1S3 609762
BLOC1S6 604310
BMP4 112262
BMP7 112267
BUB1B 602860
C12orf57 615140
C1QTNF5 608752
C2 613927
C3 120700
CA4 114760
CABP4 608965
CACNA1A 601011
CACNA1F 300110
CACNA2D4 608171
CANT1 613165
CAPN15 603267
CAPN5 602537
CASK 300172
CC2D2A 612013
CCDC103 614677
CCDC28B 610162
CCDC39 613798
CCDC40 613799
CDH23 605516
CDH3 114021
CDHR1 609502
CDKN2A 600160
CEP164 614848
CEP250 609689
CEP290 610142
CEP41 610523
CEP78 617110
CERKL 608381
CFAP410 603191
CFAP418 614477
CFB 138470
CFH 134370
CHD7 608892
CHM 300390
CHMP4B 610897
CHN1 118423
CHRDL1 300350
CHST6 605294
CIB2 605564
CISD2 611507
CLDN19 610036
CLN3 607042
CLN5 608102
CLN6 606725
CLN8 607837
CLRN1 606397
CLUAP1 616787
CNGA1 123825
CNGA3 600053
CNGB1 600724
CNGB3 605080
CNNM4 607805
COL11A1 120280
COL11A2 120290
COL18A1 120328
COL2A1 120140
COL4A1 120130
COL4A2 120090
COL4A3 120070
COL4A4 120131
COL4A5 303630
COL8A2 120252
COL9A1 120210
COL9A2 120260
COX7B 603792
CPAMD8 608841
CPLANE1 614571
CRB1 604210
CRELD1 607170
CRIM1 606189
CRPPA 614631
CRX 602225
CRYAA 123580
CRYAB 123590
CRYBA1 123610
CRYBA2 600836
CRYBA4 123631
CRYBB1 600929
CRYBB2 123620
CRYBB3 123630
CRYGA 123660
CRYGB 123670
CRYGC 123680
CRYGD 123690
CRYGS 123730
CSPP1 611654
CTDP1 604927
CTNNA1 116805
CTNNB1 116806
CTSD 116840
CTSF 603539
CWC27 617170
CYP1B1 601771
CYP27A1 606530
CYP4V2 608614
DCN 125255
DGKQ 601207
DHCR7 602858
DHDDS 608172
DHX38 605584
DNAAF1 613190
DNAAF11 614930
DNAAF2 612517
DNAAF3 614566
DNAAF5 614864
DNAH11 603339
DNAH5 603335
DNAI1 604366
DNAI2 605483
DNAJC17 616844
DNAJC5 611203
DNAL1 610062
DRAM2 613360
DTHD1 616979
DTNBP1 607145
DYNC2H1 603297
EDN3 131242
EDNRB 131244
EFEMP1 601548
ELOVL4 605512
ELP4 606985
EMC1 616846
EPG5 615068
EPHA2 176946
ERCC1 126380
ERCC2 126340
ERCC5 133530
ERCC6 609413
ERCC8 609412
ESCO2 609353
EVC 604831
EVC2 607261
EXOSC2 602238
EYA1 601653
EYS 612424
FAH 613871
FAM126A 610531
FAM161A 613596
FBLN5 604580
FBN1 134797
FKRP 606596
FKTN 607440
FLNB 603381
FLVCR1 609144
FOXC1 601090
FOXC2 602402
FOXE3 601094
FOXL2 605597
FRAS1 607830
FREM1 608944
FREM2 608945
FRMD7 300628
FSCN2 607643
FTL 134790
FYCO1 607182
FZD4 604579
GALE 606953
GALK1 604313
GCNT2 600429
GDF1 602880
GDF3 606522
GDF6 601147
GJA1 121014
GJA3 121015
GJA8 600897
GJB2 121011
GJB6 604418
GJC3 611925
GLA 300644
GLIS2 608539
GMPPB 615320
GNAT1 139330
GNAT2 139340
GNB3 139130
GNPAT 602744
GNPTG 607838
GNS 607664
GPR143 300808
GPR160 0
GPR179 614515
GRHL2 608576
GRIP1 604597
GRK1 180381
GRM6 604096
GRN 138945
GSN 137350
GUCA1A 600364
GUCA1B 602275
GUCY2D 600179
HADHA 600890
HADHB 143450
HARS1 142810
HCCS 300056
HCN1 602780
HESX1 601802
HGSNAT 610453
HK1 142600
HMCN1 608548
HMGB3 300193
HMX1 142992
HPS1 604982
HPS3 606118
HPS4 606682
HPS5 607521
HPS6 607522
HSF4 602438
HTRA1 602194
HYLS1 610693
IDH3B 604526
IDUA 252800
IFT140 614620
IFT172 607386
IFT27 615870
IFT43 614068
IFT80 611177
IFT81 605489
IFT88 600595
IMPDH1 146690
IMPG1 602870
IMPG2 607056
INPP5B 147264
INPP5E 613037
INVS 243305
IQCB1 609237
ITM2B 603904
JAG1 601920
JAM3 606871
KCNJ13 603208
KCNV2 607604
KCTD7 611725
KERA 603288
KIAA1549 613344
KIF11 148760
KIF7 611254
KIZ 615757
KLHL7 611119
KRT12 601687
KRT3 148043
LAMA1 150320
LAMB1 150240
LAMB2 150325
LARGE1 603590
LCA5 611408
LCAT 606967
LCT 603202
LEFTY2 601877
LENG8 616575
LIM2 154045
LMX1B 602575
LRAT 604863
LRIT3 615004
LRMDA 614537
LRP5 603506
LTBP2 602091
LTBP3 602090
LYST 606897
LZTFL1 606568
MAB21L1 601280
MAB21L2 604357
MAF 177075
MAK 154235
MAN2B1 609458
MAPKAPK3 602130
MECR 608205
MEIS1 601739
MERTK 604705
MFN2 608507
MFRP 606227
MFSD8 611124
MIP 154050
MIPEP 602241
MIR184 613146
MIR204 610942
MITF 156845
MKKS 604896
MKS1 609883
MLPH 606526
MMACHC 609831
MMP1 120353
MTRFR 613541
MTTP 157147
MVK 251170
MXRA8 617293
MYH9 160775
MYO5A 160777
MYO7A 276903
MYOC 601652
NAA10 300013
NBAS 608025
NDP 300658
NDUFA1 300078
NECTIN2 600798
NEK1 604588
NEK2 604043
NEK8 609799
NEUROD1 601724
NF2 607379
NHS 300457
NKX2-5 600584
NME8 607421
NMNAT1 608700
NODAL 601265
NOTCH2 600275
NPHP1 607100
NPHP3 608002
NPHP4 607215
NR2E3 604485
NR2F1 132890
NRL 162080
NTF4 162662
NXNL1 608791
NYX 300278
OAT 613349
OCA2 611409
OCRL 300535
ODAD1 615038
OFD1 300170
OPA1 605290
OPA3 606580
OPTN 602432
OTX2 600037
OVOL2 616441
P3H2 610341
PANK2 606157
PAX2 167409
PAX3 606597
PAX6 607108
PCARE 613425
PCDH15 605514
PCYT1A 123695
PDE6A 180071
PDE6B 180072
PDE6C 600827
PDE6D 602676
PDE6G 180073
PDE6H 601190
PDZD7 612971
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
PGK1 311800
PHYH 602026
PIKFYVE 609414
PITPNM3 608921
PITX2 601542
PITX3 602669
PLA2G5 601192
PLD1 602382
PLD3 615698
PLK4 605031
PNPLA6 603197
POC1B 614784
POMGNT1 606822
POMGNT2 614828
POMK 615247
POMT1 607423
POMT2 607439
PON2 602447
PPT1 600722
PQBP1 300463
PRCD 610598
PRDM13 616741
PRDM5 614161
PROM1 604365
PRPF3 607301
PRPF31 606419
PRPF4 607795
PRPF6 613979
PRPF8 607300
PRPH2 179605
PRPS1 311850
PRSS56 613858
PRX 605725
PTCH1 601309
PXDN 605158
RAB18 602207
RAB27A 603868
RAB28 612994
RAB3GAP1 602536
RAB3GAP2 609275
RARB 180220
RAX 601881
RAX2 610362
RBP3 180290
RBP4 180250
RCBTB1 607867
RD3 180040
RDH11 607849
RDH12 608830
RDH5 601617
RECQL4 603780
REEP6 609346
RGR 600342
RGS9 604067
RGS9BP 607814
RHO 180380
RHOBTB2 607352
RIMS1 606629
RLBP1 180090
ROM1 180721
RP1 603937
RP1L1 608581
RP2 300757
RP9 607331
RPE65 180069
RPGR 312610
RPGRIP1 605446
RPGRIP1L 610937
RPS19 603474
RRM2B 604712
RS1 300839
RSPH4A 612647
RSPH9 612648
RTN4IP1 610502
SAG 181031
SALL2 602219
SBF2 607697
SC5D 602286
SCARF2 613619
SDCCAG8 613524
SEC23A 610511
SEMA3A 603961
SEMA4A 607292
SH3PXD2B 613293
SHH 600725
SIL1 608005
SIPA1L3 616655
SIX3 603714
SIX5 600963
SIX6 606326
SLC16A12 611910
SLC24A1 603617
SLC24A5 609802
SLC25A1 190315
SLC25A13 603859
SLC25A40 610821
SLC25A46 610826
SLC2A1 138140
SLC33A1 603690
SLC38A8 615585
SLC45A2 606202
SLC4A4 603345
SLC7A14 615720
SMCHD1 614982
SMOC1 608488
SNAI2 602150
SNRNP200 601664
SOX1 602148
SOX10 602229
SOX2 184429
SOX3 313430
SPATA7 609868
SPINT2 605124
SPP2 602637
SRD5A3 611715
SREBF2 600481
STRA6 610745
TACR1 162323
TBC1D20 611663
TBK1 604834
TCTN1 609863
TCTN2 613846
TCTN3 613847
TDRD7 611258
TEAD1 189967
TEK 600221
TENM1 300588
TENM3 610083
TFAP2A 107580
TIMM8A 300356
TIMP3 188826
TMEM114 611579
TMEM126A 612988
TMEM138 614459
TMEM216 613277
TMEM231 614949
TMEM237 614423
TMEM67 609884
TMEM98 615949
TOPORS 609507
TPP1 607998
TRAPPC6A 610396
TREX1 606609
TRIM32 602290
TRNT1 612907
TRPM1 603576
TSPAN12 613138
TTC21B 612014
TTC8 608132
TTLL5 612268
TTPA 600415
TTR 176300
TUB 601197
TUBGCP4 609610
TUBGCP6 610053
TULP1 602280
TYR 606933
TYRP1 115501
UNC119 604011
UPF3B 300298
USH1C 605242
USH1G 607696
USH2A 608400
VAX1 604294
VCAN 118661
VIM 193060
VPS13B 607817
VSX1 605020
VSX2 142993
WDPCP 613580
WDR19 608151
WDR35 613602
WDR36 609669
WDR37 618586
WFS1 606201
WHRN 607928
XPNPEP3 613553
ZEB1 189909
ZEB2 605802
ZIC2 603073
ZIC3 300265
ZNF408 616454
ZNF423 604557
ZNF513 613598
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
3-Methylglutaconic Aciduria Type 3 AR 258501
ABCD Syndrome AR 600501
Achondrogenesis Type 2 AD 200610
Achromatopsia 2 AR 216900
Achromatopsia 3 AR 262300
Achromatopsia 4 613856
Achromatopsia 7 AR 616517
Acrocallosal Syndrome, Schinzel Type AR 200990
Acromicric Dysplasia AD 102370
Adolescent Nephronophthisis AR 604387
Adrenoleukodystrophy XL 300100
Adult Hypophosphatasia AD 146300
Age-Related Macular Degeneration 1 AD 603075
Age-Related Macular Degeneration 4 610698
Age-Related Macular Degeneration 5 613761
Age-Related Macular Degeneration 6 613757
Age-Related Macular Degeneration 7 610149
Age-Related Macular Degeneration 9 611378
Aicardi-Goutieres Syndrome 1 AD 225750
Al-Gazali-Bakalinova syndrome AR 607131
Alagille Syndrome 1 AD 118450
Alagille Syndrome 2 AD 610205
Aland Island Eye Disease XL 300600
Albinism, Ocular, With Sensorineural Deafness 103470
Albinism, Oculocutaneous, Type VII AR 615179
Alpha-B Crystallinopathy AD 608810
Alpha-Methylacyl-CoA Racemase Deficiency AR 614307
Alport Syndrome, Autosomal Dominant AD 104200
Alport Syndrome, Autosomal Recessive AR 203780
Alport Syndrome, X-Linked Recessive XL 301050
Alstrom Syndrome AR 203800
Amyloidogenic Transthyretin Amyloidosis AD 105210
Amyloidosis, Finnish Type AD 105120
Amyotrophic Lateral Sclerosis Type 12 613435
Amyotrophic lateral sclerosis, susceptibility to, 24 AD 617892
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps AD 611773
Aniridia 2 AD 617141
Anterior segment dysgenesis 6, multiple subtypes 617315
Anterior segment dysgenesis 8 AR 617319
Anterior Segment Mesenchymal Dysgenesis AD 107250
Aortic Aneurysm, Familial Thoracic 11, susceptibility to AD 617349
Aphakia, Congenital Primary AR 610256
Arterial Calcification, Generalized, of Infancy, 2 AR 614473
Arts Syndrome XL 301835
Ataxia With Vitamin E Deficiency AR 277460
Atelosteogenesis, type I AD 108720
Atelosteogenesis, type III AD 108721
Atrial Septal Defect With Atrioventricular Conduction Defects AD 108900
Atrioventricular Septal Defect AD 600309
Atrioventricular Septal Defect 2 AD 606217
Atypical Hemolytic-Uremic Syndrome 1 AD 235400
Atypical Hemolytic-Uremic Syndrome 4 AD 612924
Atypical Hemolytic-Uremic Syndrome 5 AD 612925
Autosomal Recessive Cutis Laxa Type 3A AR 219150
Avascular Necrosis Of Femoral Head, Primary AD 608805
Axenfeld-Rieger Syndrome Type 3 AD 602482
Axenfeld-Rieger syndrome, type 1 AD 180500
Ayme-Gripp Syndrome AD 601088
Baller-Gerold Syndrome AR 218600
Bardet-Biedl Syndrome 1 AR 209900
Bardet-Biedl Syndrome 10 AR 615987
Bardet-Biedl Syndrome 11 AR 615988
Bardet-Biedl Syndrome 12 AR 615989
Bardet-Biedl Syndrome 13 AR 615990
Bardet-Biedl Syndrome 14 AR 615991
Bardet-Biedl Syndrome 15 AR 615992
Bardet-Biedl Syndrome 16 AR 615993
Bardet-Biedl Syndrome 17 AR 615994
Bardet-Biedl Syndrome 18 AR 615995
Bardet-Biedl Syndrome 19 AR 615996
Bardet-Biedl Syndrome 2 AR 615981
Bardet-Biedl Syndrome 3 AR 600151
Bardet-Biedl Syndrome 4 AR 615982
Bardet-Biedl Syndrome 5 AR 615983
Bardet-Biedl Syndrome 6 AR 605231
Bardet-Biedl Syndrome 7 AR 615984
Bardet-Biedl Syndrome 8 AR 615985
Bardet-Biedl Syndrome 9 AR 615986
Basal Cell Carcinoma, Multiple 605462
Basal Laminar Drusen AD 126700
Behr Syndrome AR 210000
Benign Familial Hematuria AD 141200
Bestrophinopathy, Autosomal Recessive 611809
Bietti Crystalline Corneoretinal Dystrophy AR 210370
Bifid Nose With Or Without Anorectal And Renal Anomalies 608980
Bile Acid Synthesis Defect, Congenital, 4 AR 214950
Blepharophimosis, Ptosis, And Epicanthus Inversus AD 110100
Blood Group--I System AD 110800
Bone Mineral Density Quantitative Trait Locus 1 AD 601884
Boomerang Dysplasia AD 112310
Bosch-Boonstra-Schaaf optic atrophy syndrome AD 615722
Bosma arhinia microphthalmia syndrome AD 603457
Bothnia Retinal Dystrophy AR 607475
Boucher-Neuhauser syndrome AR 215470
Branchiooculofacial Syndrome AD 113620
Branchiootic syndrome 1 AD 602588
Branchiootorenal Syndrome 1, with or without Cataracts AD 113650
Branchiootorenal Syndrome 2 610896
Brittle Cornea Syndrome 2 AR 614170
CARASIL Syndrome AR 600142
Cardiac valvular defect, developmental AR 212093
Cardiomyopathy, dilated, 1II AD 615184
Carpal Tunnel Syndrome AD 115430
Cataract 10 AD 600881
Cataract 11 AD 610623
Cataract 12 AD 611597
Cataract 13 AR 116700
Cataract 14 AD 601885
Cataract 15 AD 615274
Cataract 16 AD 613763
Cataract 17 AD 611544
Cataract 18 AR 610019
Cataract 19 AR 615277
Cataract 2 AD 604307
Cataract 20 AD 116100
Cataract 21 AD 610202
Cataract 22 AD 609741
Cataract 23 610425
Cataract 3 AD 601547
Cataract 30 AD 116300
Cataract 31 AD 605387
Cataract 33 AD 611391
Cataract 34, multiple types 612968
Cataract 36 AR 613887
Cataract 38 AR 614691
Cataract 39 AD 615188
Cataract 4 AD 115700
Cataract 41 AD 116400
Cataract 42 AD 115900
Cataract 45 AR 616851
Cataract 47 AD 612018
Cataract 5 AD 116800
Cataract 6 AD 116600
Cataract 9 AD 604219
Cataract, Congenital, X-Linked XL 302200
Cataract, Zonular Pulverulent 1 AD 116200
Central areolar choroidal dystrophy 1 AD 215500
Cerebellar Atrophy, Vsual Impairment, and Psychomotor Retardation AR 616875
Cerebellar, ocular, craniofacial, and genital syndrome AR 618479
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 AD 616779
Cerebro-Oculo-Facio-Skeletal Syndrome AR 214150
Cerebrooculofacioskeletal Syndrome 2 AR 610756
Cerebrooculofacioskeletal syndrome 3 AR 616570
Cerebrooculofacioskeletal Syndrome 4 AR 610758
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
Charcot-Marie-Tooth disease, axonal, type 2A2B AR 617087
Charcot-Marie-Tooth disease, axonal, type 2W AD 616625
Charcot-Marie-Tooth Disease, Type 2A2 AD 609260
Charcot-Marie-Tooth Disease, Type 3 AD 145900
Charcot-Marie-Tooth Disease, Type 4B2 AR 604563
Charcot-Marie-Tooth Disease, Type 4F AR 614895
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 XL 311070
CHARGE Association AD 214800
Chediak-Higashi Syndrome AR 214500
Chilblain Lupus Erythematosus AD 610448
Childhood Hypophosphatasia AR 241510
Choroidal Dystrophy, Central Areolar 2 AD 613105
Choroideremia XL 303100
Chronic Obstructive Pulmonary Disease 606963
Ciliary Dyskinesia, Primary, 1 AR 244400
Ciliary Dyskinesia, Primary, 10 612518
Ciliary Dyskinesia, Primary, 11 612649
Ciliary Dyskinesia, Primary, 12 612650
Ciliary Dyskinesia, Primary, 13 AR 613193
Ciliary Dyskinesia, Primary, 14 613807
Ciliary Dyskinesia, Primary, 15 613808
Ciliary Dyskinesia, Primary, 16 AR 614017
Ciliary Dyskinesia, Primary, 17 AR 614679
Ciliary Dyskinesia, Primary, 18 AR 614874
Ciliary Dyskinesia, Primary, 2 AR 606763
Ciliary Dyskinesia, Primary, 20 AR 615067
Ciliary Dyskinesia, Primary, 3 608644
Ciliary Dyskinesia, Primary, 6 AR 610852
Ciliary Dyskinesia, Primary, 7 AR 611884
Ciliary Dyskinesia, Primary, 9 612444
Citrin Deficiency AR 605814
Citrullinemia Type II AR 603471
COACH Syndrome AR 216360
COACH syndrome 2 619111
COACH syndrome 3 619113
Cockayne Syndrome Type I AR 216400
Cockayne Syndrome, Type B AR 133540
Cohen Syndrome AR 216550
Cold-Induced Sweating Syndrome 3 AR 617055
Coloboma Of Optic Disc AD 120430
Coloboma, Ocular AD 120200
Coloboma, ocular, autosomal recessive AR 216820
Combined D-2- and L-2-HydroxyGlutaric Aciduria AR 615182
Combined oxidative phosphorylation deficiency 31 AR 617228
COMMAD syndrome AR 617306
Complement Component 2 Deficiency AR 217000
Complement Component 3 Deficiency, Autosomal Recessive AR 613779
Complement factor B deficiency AR 615561
Cone Dystrophy 3 AD 602093
Cone Dystrophy 4 AR 613093
Cone-Rod Dystrophy 10 AR 610283
Cone-Rod Dystrophy 11 AD 610381
Cone-Rod Dystrophy 12 AD 612657
Cone-Rod Dystrophy 13 608194
Cone-rod dystrophy 14 AD 602093
Cone-Rod Dystrophy 15 AR 613660
Cone-Rod Dystrophy 18 AR 615374
Cone-Rod Dystrophy 19 AR 615860
Cone-Rod Dystrophy 2 AD 120970
Cone-Rod Dystrophy 20 AR 615973
Cone-Rod Dystrophy 21 AR 616502
Cone-Rod Dystrophy 3 604116
Cone-Rod Dystrophy 5 AD 600977
Cone-Rod Dystrophy 6 AD 601777
Cone-Rod Dystrophy 7 603649
Cone-Rod Dystrophy 9 AR 612775
Cone-Rod Dystrophy and Hearing Loss AR 617236
Cone-rod dystrophy and hearing loss 2 AR 618358
Cone-Rod Dystrophy X-Linked 3 XL 300476
Cone-Rod Dystrophy, X-Linked, 1 XL 304020
Congenital Aniridia AD 106210
Congenital Cataracts, Facial Dysmorphism, And Neuropathy AR 604168
Congenital Cataracts, Hearing Loss, and Neurodegeneration AR 614482
Congenital Central Hypoventilation syndrome AD 209880
Congenital Disorder Of Glycosylation Type 1Q AR 612379
Congenital heart defects, hamartomas of tongue, and polysyndactyly AR 217085
Congenital Lactase Deficiency AR 223000
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
Congenital Secretory Diarrhea, Sodium Type AR 270420
Congenital Stromal Corneal Dystrophy AD 610048
Conotruncal Heart Malformations 217095
Cornea Plana 2 AR 217300
Corneal Dystrophy Fuchs Endothelial 1 AD 136800
Corneal Dystrophy, Fuchs Endothelial, 6 613270
Corneal Dystrophy, Fuchs Endothelial, 8 AD 615523
Corneal Dystrophy, Posterior Polymorphous, 2 AD 609140
Corneal Dystrophy, Posterior Polymorphous, 3 609141
Corneal dystrophy, posterior polymorphous, 4 AD 618031
Corneal Opacification and Other Ocular Anomalies AR 269400
Cranioectodermal Dysplasia 2 AR 613610
Cranioectodermal Dysplasia 3 AR 614099
Cranioectodermal Dysplasia 4 AR 614378
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome 614195
Craniofacial Deafness Hand Syndrome AD 122880
Craniolenticulosutural Dysplasia AR 607812
Craniometaphyseal dysplasia, autosomal recessive AR 218400
Cryptophthalmos, unilateral or bilateral, isolated AR 123570
Cutis Laxa, Autosomal Dominant 2 AD 614434
Cutis Laxa, Autosomal Dominant 3 AD 616603
Cutis Laxa, Autosomal Recessive, Type IA AR 219100
Czech Dysplasia Metatarsal Type AD 609162
De Sanctis-Cacchione Syndrome AR 278800
Deafness, Autosomal Dominant 11 AD 601317
Deafness, Autosomal Dominant 13 AD 601868
Deafness, Autosomal Dominant 17 AD 603622
Deafness, Autosomal Dominant 28 AD 608641
Deafness, autosomal dominant 37 AD 618533
Deafness, Autosomal Dominant 3A AD 601544
Deafness, Autosomal Dominant 3B AD 612643
Deafness, Autosomal Dominant 6 AD 600965
Deafness, Autosomal Recessive 12 AR 601386
Deafness, Autosomal Recessive 18 AR 602092
Deafness, Autosomal Recessive 1A AR 220290
Deafness, Autosomal Recessive 1B AR 612645
Deafness, Autosomal Recessive 2 AR 600060
Deafness, Autosomal Recessive 23 AR 609533
Deafness, Autosomal Recessive 31 AR 607084
Deafness, Autosomal Recessive 48 AR 609439
Deafness, Autosomal Recessive 53 AR 609706
Deafness, autosomal recessive 57 AR 618003
Deafness, congenital heart defects, and posterior embryotoxon 617992
Deafness, X-Linked 1 XL 304500
Deficiency Of Alpha-Mannosidase AR 248500
Deficiency Of Galactokinase AR 230200
Dementia Familial British AD 176500
Dementia, Familial Danish AD 117300
Dent Disease 2 XL 300555
Dental Anomalies and Short Stature AR 601216
Desbuquois Syndrome AR 251450
Developmental Delay and Seizures with or without Movement Abnormalities AD 617836
Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness AR 222300
Diabetes Mellitus, Noninsulin-Dependent AD 125853
Diamond-Blackfan Anemia 1 AD 105650
Dilated Cardiomyopathy 1X AR 611615
Distichiasis-Lymphedema Syndrome AD 153400
Dominant Hereditary Optic Atrophy AD 165500
Doyne Honeycomb Retinal Dystrophy AD 126600
Duane Syndrome Type 2 AD 604356
Dyschromatosis universalis hereditaria 3 AD 615402
Dystonia 9 AD 601042
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities AR 617282
Dystransthyretinemic Euthyroidal Hyperthyroxinemia AD 145680
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy AR 225280
Ectodermal Dysplasia/Short Stature Syndrome AR 616029
Ectopia Lentis, Isolated, Autosomal Dominant AD 129600
EDICT Syndrome AD 614303
Ellis-van Creveld Syndrome AR 225500
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 AD 617900
Enhanced S-Cone Syndrome AR 268100
Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 AD 614847
Epilepsy, Progressive Myoclonic 3 AR 611726
Epileptic Encephalopathy, Early Infantile, 24 AD 615871
Epileptic Encephalopathy, Early Infantile, 42 AD 617106
Epileptic encephalopathy, early infantile, 64 AD 618004
Epiphyseal dysplasia, multiple, 7 AR 617719
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness AD 132450
Episodic Ataxia Type 2 AD 108500
Erythrokeratodermia variabilis et progressiva 3 AD 617525
Essential Hypertension MF 145500
Exudative Vitreoretinopathy 2, X-Linked XL 305390
Exudative Vitreoretinopathy 4 AD 601813
Exudative Vitreoretinopathy 5 AD 613310
Exudative Vitreoretinopathy 6 AD 616468
Exudative Vitreoretinopathy 7 AD 617572
Fabry's Disease XL 301500
Facioscapulohumeral Muscular Dystrophy 2 158901
Factor H Deficiency AD 609814
Fallot Tetralogy AD 187500
Familial Colorectal Cancer 114500
Familial Exudative Vitreoretinopathy AD 133780
Familial Hemiplegic Migraine Type 1 AD 141500
Familial Hypobetalipoproteinemia AR 200100
Febrile Seizures, Familial, 4 AD 604352
FG Syndrome 4 300422
Fibrochondrogenesis AR 228520
Fibrochondrogenesis 2 AD 614524
Fish-Eye Disease AR 136120
Fleck Corneal Dystrophy AD 121850
Fleck Retina, Familial Benign AR 228980
Focal segmental glomerulosclerosis 10 AR 256020
Foveal Hypoplasia 2, with or without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis AR 609218
Foveal Hypoplasia And Presenile Cataract Syndrome AD 136520
Frank Ter Haar Syndrome AR 249420
Fraser Syndrome AR 219000
Fraser Syndrome 2 AR 617666
Fraser Syndrome 3 AR 617667
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 AD 616439
Frontotemporal Dementia, Ubiquitin-Positive AD 607485
Fukuyama Congenital Muscular Dystrophy AR 253800
Geleophysic Dysplasia 2 AD 614185
Geleophysic dysplasia 3 AD 617809
Generalized epilepsy with febrile seizures plus, type 10 AD 618482
Glaucoma 1, open angle, F AD 603383
Glaucoma 1, Open Angle, G 609887
Glaucoma 1, Open Angle, O 613100
Glaucoma 3, Primary Congenital, D 613086
Glaucoma 3, primary congenital, E AD 617272
Glaucoma, Congenital AR 231300
Glaucoma, Normal Tension, Susceptibility To 606657
Glaucoma, primary closed-angle AD 618880
Glomerulosclerosis, Focal Segmental, 7 AD 616002
Glut1 Deficiency Syndrome 1 AD 606777
Glut1 Deficiency Syndrome 2 AD 612126
Gorlin Syndrome AD 109400
Griscelli Syndrome Type 1 AR 214450
Griscelli Syndrome Type 2 AR 607624
Griscelli Syndrome Type 3 AR 609227
Gyrate Atrophy of Choroid and Retina with or without Ornithinemia AR 258870
Hajdu-Cheney Syndrome AD 102500
Heimler syndrome 1 AR 234580
Heimler syndrome 2 AR 616617
Hemolytic Anemia Due To Hexokinase Deficiency AR 235700
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts AR 613730
Hermansky-Pudlak Syndrome 1 AR 203300
Hermansky-Pudlak Syndrome 2 AR 608233
Hermansky-Pudlak Syndrome 3 AR 614072
Hermansky-Pudlak Syndrome 4 AR 614073
Hermansky-Pudlak Syndrome 5 AR 614074
Hermansky-Pudlak Syndrome 6 AR 614075
Hermansky-Pudlak Syndrome 7 AR 614076
Hermansky-Pudlak Syndrome 8 AR 614077
Hermansky-Pudlak Syndrome 9 AR 614171
Heterotaxy, Visceral, 5 AD 270100
Heterotaxy, Visceral, X-Linked XL 306955
Hidrotic Ectodermal Dysplasia Syndrome AD 129500
Hirschsprung Disease 2 AD 600155
Hirschsprung Disease 4 AD 613712
Holoprosencephaly 2 AD 157170
Holoprosencephaly 3 AD 142945
Holoprosencephaly 5 AD 609637
Holoprosencephaly 7 AD 610828
Hurler Syndrome AR 607014
Hydrolethalus Syndrome 1 AR 236680
Hydrolethalus Syndrome 2 AR 614120
Hyperferritinemia Cataract Syndrome AD 600886
Hyperimmunoglobulin D With Periodic Fever AR 260920
Hypogonadotropic Hypogonadism 16 with or without Anosmia AD 614897
Hypomagnesemia 5, Renal, With Ocular Involvement AR 248190
Hypomyelination And Congenital Cataract AR 610532
Hypoplastic Left Heart Syndrome AR 241550
Hypoplastic Left Heart Syndrome 2 AD 614435
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration AR 607236
Hypothyroidism, Congenital, Nongoitrous, 5 AD 225250
Ichthyosis, Hystrix-Like, With Deafness AD 602540
Ichthyosis, spastic quadriplegia, and mental retardation AR 614457
Immunodeficiency 13 AD 615518
Infantile cerebellar-retinal degeneration AR 614559
Infantile Hypophosphatasia AR 241500
Infantile Liver Failure Syndrome 2 AR 616483
Infantile Nephronophthisis AR 602088
Intervertebral Disc Disorder 603932
Iridogoniodysgenesis Type1 AD 601631
Iridogoniodysgenesis, Dominant Type AD 137600
Jalili Syndrome AR 217080
Joubert Syndrome AR 614615
Joubert Syndrome 1 AR 213300
Joubert Syndrome 10 XL 300804
Joubert Syndrome 13 AR 614173
Joubert syndrome 14 AR 614424
Joubert syndrome 15 AR 614464
Joubert syndrome 16 AR 614465
Joubert syndrome 18 AR 614815
Joubert syndrome 19 AD 614844
Joubert Syndrome 2 AR 608091
Joubert syndrome 20 AR 614970
Joubert Syndrome 21 AR 615636
Joubert Syndrome 22 AR 615665
Joubert Syndrome 24 AR 616654
Joubert Syndrome 27 AR 617120
Joubert Syndrome 28 AR 617121
Joubert Syndrome 3 AR 608629
Joubert syndrome 35 AR 618161
Joubert Syndrome 4 AR 609583
Joubert Syndrome 5 AR 610188
Joubert Syndrome 6 AR 610688
Joubert Syndrome 7 AR 611560
Joubert Syndrome 8 AR 612291
Joubert Syndrome 9 AR 612285
Juvenile Macular Degeneration And Hypotrichosis AR 601553
Kahrizi syndrome AR 612713
Kallmann Syndrome 5 AD 612370
Keratitis, Hereditary AD 148190
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant AD 148210
Keratoconus 1 AD 148300
Keratoderma Palmoplantar Deafness AD 148350
Klein-Waardenberg's Syndrome AD 148820
Klippel-Feil Syndrome 1, Autosomal Dominant AD 118100
Klippel-Feil Syndrome 3, Autosomal Dominant 613702
Kniest Dysplasia AD 156550
Knobloch Syndrome 1 AR 267750
Knuckle Pads, Deafness And Leukonychia Syndrome AD 149200
L-ferritin deficiency, dominant and recessive AD 615604
Larsen Syndrome, Dominant Type AD 150250
Late-Onset Retinal Degeneration AD 605670
Lathosterolosis AR 607330
Laurence-Moon syndrome AR 245800
Leber Congenital Amaurosis 1 AR 204000
Leber Congenital Amaurosis 10 611755
Leber Congenital Amaurosis 11 AD 613837
Leber Congenital Amaurosis 12 AR 610612
Leber Congenital Amaurosis 13 AD 612712
Leber Congenital Amaurosis 14 AR 613341
Leber Congenital Amaurosis 15 AR 613843
Leber Congenital Amaurosis 16 AR 614186
Leber Congenital Amaurosis 17 AR 615360
Leber Congenital Amaurosis 2 AR 204100
Leber Congenital Amaurosis 3 604232
Leber Congenital Amaurosis 4 AD 604393
Leber Congenital Amaurosis 5 AR 604537
Leber Congenital Amaurosis 6 AR 613826
Leber Congenital Amaurosis 7 613829
Leber Congenital Amaurosis 8 AR 613835
Leber Congenital Amaurosis 9 AR 608553
Legg-Calve-Perthes Disease AD 150600
Lenz Microphthalmia Syndrome XL 309800
Limb-Girdle Muscular Dystrophy, Type 2H AR 254110
Linear Skin Defects with Multiple Congenital Anomalies 2 XL 300887
Lissencephaly 5 AR 615191
Liver Cancer 114550
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency AR 609016
Lowe Syndrome XL 309000
Lung Cancer 211980
Macular Corneal Dystrophy Type I AR 217800
Macular degeneration, age-related, 14, reduced risk of 615489
Macular Degeneration, Age-Related, 2 AD 153800
Macular Degeneration, X-Linked Atrophic XL 300834
Macular Dystrophy with Central Cone Involvement AR 616170
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 AD 608970
Macular dystrophy, patterned, 3 AD 617111
Macular Dystrophy, Retinal, 2 AD 608051
Macular Dystrophy, Vitelliform, 4 AD 616151
Macular Dystrophy, Vitelliform, 5 AD 616152
Macular Dystrophy, Vitelliform, Adult-Onset AD 608161
Manitoba Oculotrichoanal Syndrome AR 248450
Marden Walker Like Syndrome AR 600920
Marfan lipodystrophy syndrome AD 616914
Marfan Syndrome AD 154700
Marinesco-Sjogren Syndrome AR 248800
Marshall Syndrome AD 154780
Martsolf Syndrome AR 212720
Mass Syndrome AD 604308
Maturity-Onset Diabetes Of The Young, Type 6 606394
May-Hegglin Anomaly AD 155100
Mckusick Kaufman Syndrome AR 236700
Meckel Syndrome 1 AR 249000
Meckel Syndrome 10 AR 614175
Meckel syndrome 11 AR 615397
Meckel Syndrome 2 AR 603194
Meckel Syndrome 3 AR 607361
Meckel Syndrome 4 AR 611134
Meckel Syndrome 5 AR 611561
Meckel Syndrome 6 AR 612284
Meckel Syndrome 7 AR 267010
Meckel Syndrome 8 AR 613885
Meckel Syndrome 9 AR 614209
Medulloblastoma 155255
Meesmann Corneal Dystrophy AD 122100
Meesmann corneal dystrophy 2 AD 618767
Melanoma Astrocytoma Syndrome AD 155755
Melanoma, Cutaneous Malignant 2 AD 155601
Melanoma, cutaneous malignant, susceptibility to, 8 614456
Melanoma-Pancreatic Cancer Syndrome AD 606719
Meningioma, Familial 607174
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia XL 300749
Mental Retardation, Autosomal dominant 19 AD 615075
Mental Retardation, X-Linked, Syndromic 14 XL 300676
Mental Retardation, X-Linked, With Panhypopituitarism 300123
Metabolic Syndrome X AD 605552
Methylmalonic Aciduria and Homocystinuria, cblC Type AR 277400
Mevalonic Aciduria AR 610377
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant AD 618564
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 AR 251270
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 AR 616171
Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 AR 616335
Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation AD 152950
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus AR 615458
Microphthalmia Syndromic 3 AD 206900
Microphthalmia Syndromic 5 AD 610125
Microphthalmia Syndromic 6 AD 607932
Microphthalmia Syndromic 7 XL 309801
Microphthalmia Syndromic 9 AR 601186
Microphthalmia With Limb Anomalies AR 206920
Microphthalmia, Isolated 2 610093
Microphthalmia, Isolated 3 AR 611038
Microphthalmia, Isolated 4 613094
Microphthalmia, Isolated 5 AR 611040
Microphthalmia, Isolated 6 AR 613517
Microphthalmia, Isolated 7 AD 613704
Microphthalmia, Isolated 8 AR 615113
Microphthalmia, Isolated, with Coloboma 10 AD 616428
Microphthalmia, Isolated, With Coloboma 3 610092
Microphthalmia, Isolated, With Coloboma 5 AD 611638
Microphthalmia, Isolated, With Coloboma 6 AD 613703
Microphthalmia, isolated, with coloboma 7 AD 614497
Microphthalmia, Isolated, with Coloboma 9 AR 615145
Microphthalmia, syndromic 11 AR 614402
Microphthalmia, syndromic 12 AD 615524
Microphthalmia, Syndromic 13 XL 300915
Microphthalmia/Coloboma and Skeletal Dysplasia Syndrome AD 615877
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma AR 251750
Mitochondrial complex I deficiency, nuclear type 12 XL 301020
Mitochondrial DNA Depletion Syndrome 14 (Encephalocardiomyopathic Type) AR 616896
Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy AR 612075
Mohr-Tranebjaerg Syndrome XL 304700
MORM Syndrome AR 610156
Mosaic Variegated Aneuploidy Syndrome AR 257300
Mowat-Wilson Syndrome AD 235730
Mucolipidosis III Gamma AR 252605
Mucopolysaccharidosis, MPS-I-H/S AR 607015
Mucopolysaccharidosis, MPS-I-S AR 607016
Mucopolysaccharidosis, MPS-III-C AR 252930
Mucopolysaccharidosis, MPS-III-D AR 252940
Multiple Cutaneous And Mucosal Venous Malformations AD 600195
Multiple Epiphyseal Dysplasia 2 AD 600204
Multiple Epiphyseal Dysplasia 6 AD 614135
Multiple synostoses syndrome 4 AD 617898
Muscle Eye Brain Disease AR 253280
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 AR 615249
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 AR 615287
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 AR 615350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 AR 613150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 AR 613154
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 AR 614643
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 AR 615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 1 AR 613155
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 AR 615351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 2 AR 613156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 3 AR 613151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 6 AR 608840
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Mental Retardation), Type B, 4 AR 613152
Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 AR 618135
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 AR 609308
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 AR 616094
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 AR 615352
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 AR 613158
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 AR 613157
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 AR 611588
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 AR 607155
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 AR 616052
Myasthenic syndrome, congenital, 23, presynaptic AR 618197
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related AR 613869
Myopia, High, with Cataract And Vitreoretinal Degeneration AR 614292
Nail-Patella Syndrome AD 161200
Nance-Horan Syndrome XL 302350
Nanophthalmos 2 609549
Nanophthalmos 4 AD 615972
Neoplasm Of Ovary 167000
Nephronophthisis AR 256100
Nephronophthisis 11 AR 613550
Nephronophthisis 12 AD 613820
Nephronophthisis 13 AR 614377
Nephronophthisis 14 AD 614844
Nephronophthisis 15 AR 614845
Nephronophthisis 16 AR 615382
Nephronophthisis 4 AR 606966
Nephronophthisis 7 611498
Nephronophthisis 9 613824
Nephronophthisis-Like Nephropathy 1 AR 613159
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities 614199
Neurodegeneration With Brain Iron Accumulation 1 AR 234200
Neurodevelopmental disorder with visual defects and brain anomalies AD 618547
Neuroferritinopathy AD 606159
Neurofibromatosis, Type 2 AD 101000
Neurooculocardiogenitourinary syndrome AD 618652
Neuropathy, Hereditary Motor and Sensory, Russe Type AR 605285
Neuropathy, Hereditary Motor and Sensory, Type VIA AD 601152
Neuropathy, Hereditary Motor and Sensory, Type VIB AR 616505
Neuropathy, Hereditary, with or without Age-Related Macular Degeneration AD 608895
Newfoundland Rod-Cone Dystrophy 607476
Night Blindness, Congenital Stationary, Nougaret Type AD 610444
Night Blindness, Congenital Stationary, Rambusch Type AD 163500
Night Blindness, Congenital Stationary, Rhodopsin-Related 610445
Night Blindness, Congenital Stationary, Type 1A XL 310500
Night Blindness, Congenital Stationary, Type 1B AR 257270
Night Blindness, Congenital Stationary, Type 1C 613216
Night Blindness, Congenital Stationary, Type 1D AR 613830
Night Blindness, Congenital Stationary, Type 1E AR 614565
Night Blindness, Congenital Stationary, Type 1F AR 615058
Night Blindness, Congenital Stationary, Type 1G AR 616389
Night blindness, congenital stationary, type 1H AR 617024
Night blindness, congenital stationary, type 1I AR 618555
Night Blindness, Congenital Stationary, Type 2A XL 300071
Night Blindness, Congenital Stationary, Type 2B AR 610427
Norrie Disease XL 310600
Norum Disease AR 245900
Nystagmus 6, Congenital, X-Linked XL 300814
Occult Macular Dystrophy AD 613587
Ocular Albinism, Type I XL 300500
Oculoauricular Syndrome AR 612109
Oculocutaneous Albinism Type 1A AR 203100
Oculocutaneous Albinism Type 1B AR 606952
Oculocutaneous Albinism Type 3 AR 203290
Oculocutaneous Albinism Type IV AR 606574
Oculodentodigital Dysplasia AD 164200
Oculodentodigital Dysplasia, Autosomal Recessive AR 257850
Oculofaciocardiodental Syndrome XL 300166
Ogden Syndrome XL 300855
Oguchi Disease 2 613411
Oguchi's Disease AR 258100
Oliver-McFarlane syndrome AR 275400
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures AR 616732
Optic Atrophy 7 AR 612989
Optic atrophy 9 AR 616289
Optic Atrophy And Cataract, Autosomal Dominant AD 165300
Optic Atrophy Type 1 AD 125250
Optic Disc Anomalies with Retinal and/or Macular Dystrophy AR 212550
Optic Nerve Hypoplasia, Bilateral AD 165550
Oral-Facial-Digital Syndrome XL 311200
Orofacial Cleft 11 600625
Orofaciodigital Syndrome IV AR 258860
Orofaciodigital syndrome VI AR 277170
Osteoarthritis With Mild Chondrodysplasia AD 604864
Osteopetrosis Autosomal Dominant Type 1 AD 607634
Osteoporosis AD 166710
Osteoporosis With Pseudoglioma AR 259770
Otofaciocervical Syndrome AD 166780
Otospondylomegaepiphyseal Dysplasia AR 215150
Palmoplantar keratoderma with congenital alopecia AD 104100
Panhypopituitarism X-Linked XL 312000
Papillorenal Syndrome AD 120330
Partial Albinism AD 172800
Patterned Dystrophy Of Retinal Pigment Epithelium AD 169150
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease AD 609136
Peroxisome biogenesis disorder 10A (Zellweger) AR 614882
Peroxisome biogenesis disorder 10B AR 617370
Peroxisome biogenesis disorder 11A (Zellweger) AR 614883
Peroxisome biogenesis disorder 11B AR 614885
Peroxisome biogenesis disorder 12A (Zellweger) AR 614886
Peroxisome biogenesis disorder 13A (Zellweger) AR 614887
Peroxisome Biogenesis Disorder 14B AR 614920
Peroxisome biogenesis disorder 1A (Zellweger) AR 214100
Peroxisome biogenesis disorder 1B (NALD/IRD) AR 601539
Peroxisome biogenesis disorder 2A (Zellweger) AR 214110
Peroxisome biogenesis disorder 2B AR 202370
Peroxisome biogenesis disorder 3A (Zellweger) AR 614859
Peroxisome biogenesis disorder 3B AR 266510
Peroxisome biogenesis disorder 4A (Zellweger) AR 614862
Peroxisome biogenesis disorder 4B AD 614863
Peroxisome biogenesis disorder 5A (Zellweger) AR 614866
Peroxisome biogenesis disorder 5B AR 614867
Peroxisome biogenesis disorder 6A (Zellweger) AR 614870
Peroxisome biogenesis disorder 6B AR 614871
Peroxisome biogenesis disorder 7A (Zellweger) AR 614872
Peroxisome biogenesis disorder 7B AR 614873
Peroxisome biogenesis disorder 8A, (Zellweger) AR 614876
Peroxisome biogenesis disorder 8B AR 614877
Peroxisome Biogenesis Disorder 9B AR 614879
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive AR 221900
Peters Anomaly AD 604229
Peters Plus Syndrome AR 261540
Phosphoglycerate Kinase 1 Deficiency XL 300653
Phosphoribosylpyrophosphate Synthetase Superactivity XL 300661
Pierson Syndrome AR 609049
Pigmentary Retinal Dystrophy AD 136880
Pigmented Paravenous Chorioretinal Atrophy AD 172870
Pilomatrixoma 132600
Pituitary adenoma 5, multiple types AD 617540
Pituitary Hormone Deficiency, Combined, 6 AD 613986
Platyspondylic Lethal Skeletal Dysplasia Torrance Type AD 151210
Polycystic Liver Disease 4 with or without Kidney Cysts AD 617875
Polymorphous Corneal Dystrophy AD 122000
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract AR 612674
Porencephaly 1 AD 175780
Porencephaly 2 AD 614483
Poretti-Boltshauser Syndrome AR 615960
Porokeratosis, Disseminated Superficial Actinic 1 AD 175900
Posterior Column Ataxia With Retinitis Pigmentosa AR 609033
Premature Chromatid Separation Trait AD 176430
Premature ovarian failure 11 AD 616946
Premature Ovarian Failure 3 AD 608996
Primary Open Angle Glaucoma AD 137760
Primary Open Angle Glaucoma Juvenile Onset 1 AD 137750
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 5 AD 613077
Prolonged Electroretinal Response Suppression 608415
Pseudohyperkalemia, familial, 2, due to red cell leak AD 609153
Pseudoxanthoma Elasticum AR 264800
Pseudoxanthoma Elasticum, Forme Fruste AD 177850
Rapadilino Syndrome AR 266280
Recessive Dystrophic Epidermolysis Bullosa AR 226600
Refsum Disease, Classic AR 266500
Renal Dysplasia And Retinal Aplasia AR 266900
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation AR 604278
Renal-Hepatic-Pancreatic Dysplasia AR 208540
Renal-hepatic-pancreatic dysplasia 2 AR 615415
Renpenning Syndrome 1 XL 309500
Retinal arteries, tortuosity of AD 180000
Retinal Cone Dystrophy 3A AD 610024
Retinal Cone Dystrophy 3B AR 610356
Retinal Cone Dystrophy 4 AR 610478
Retinal Dystrophy and Iris Coloboma with or without Cataract AD 616722
Retinal Dystrophy and Obesity AR 616188
Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities AD 616079
Retinal dystrophy with leukodystrophy AR 618863
Retinal Dystrophy with Macular Staphyloma AR 617547
Retinal Dystrophy with or without Extraocular Anomalies AR 617175
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome AR 615147
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome AR 616108
Retinitis Pigmentosa 1 AD 180100
Retinitis Pigmentosa 10 AD 180105
Retinitis Pigmentosa 11 AD 600138
Retinitis Pigmentosa 12 AR 600105
Retinitis Pigmentosa 13 AD 600059
Retinitis Pigmentosa 14 AR 600132
Retinitis Pigmentosa 15 300029
Retinitis Pigmentosa 17 AD 600852
Retinitis Pigmentosa 18 AD 601414
Retinitis Pigmentosa 19 AR 601718
Retinitis Pigmentosa 2 XL 312600
Retinitis Pigmentosa 20 AR 613794
Retinitis Pigmentosa 23 XL 300424
Retinitis Pigmentosa 25 AR 602772
Retinitis Pigmentosa 26 608380
Retinitis Pigmentosa 27 AD 613750
Retinitis Pigmentosa 28 606068
Retinitis Pigmentosa 30 607921
Retinitis Pigmentosa 31 609923
Retinitis Pigmentosa 33 AD 610359
Retinitis Pigmentosa 35 AD 610282
Retinitis Pigmentosa 36 610599
Retinitis Pigmentosa 37 AD 611131
Retinitis Pigmentosa 38 AR 613862
Retinitis Pigmentosa 39 613809
Retinitis Pigmentosa 4 AD 613731
Retinitis Pigmentosa 40 AR 613801
Retinitis Pigmentosa 41 AR 612095
Retinitis Pigmentosa 42 AD 612943
Retinitis Pigmentosa 43 613810
Retinitis Pigmentosa 44 613769
Retinitis Pigmentosa 45 AR 613767
Retinitis Pigmentosa 46 AR 612572
Retinitis Pigmentosa 47 613758
Retinitis Pigmentosa 48 613827
Retinitis Pigmentosa 49 613756
Retinitis Pigmentosa 50 613194
Retinitis Pigmentosa 51 AR 613464
Retinitis Pigmentosa 54 613428
Retinitis Pigmentosa 55 613575
Retinitis Pigmentosa 56 AR 613581
Retinitis Pigmentosa 57 AR 613582
Retinitis Pigmentosa 58 AR 613617
Retinitis Pigmentosa 59 AR 613861
Retinitis Pigmentosa 60 AD 613983
Retinitis Pigmentosa 61 614180
Retinitis Pigmentosa 62 AR 614181
Retinitis Pigmentosa 66 AR 615233
Retinitis Pigmentosa 67 AR 615565
Retinitis Pigmentosa 68 AR 615725
Retinitis Pigmentosa 69 AR 615780
Retinitis Pigmentosa 7 AD 608133
Retinitis Pigmentosa 70 AD 615922
Retinitis Pigmentosa 71 AR 616394
Retinitis Pigmentosa 72 AR 616469
Retinitis Pigmentosa 73 AR 616544
Retinitis Pigmentosa 74 AR 616562
Retinitis Pigmentosa 75 AR 617023
Retinitis pigmentosa 76 AR 617123
Retinitis Pigmentosa 77 AR 617304
Retinitis pigmentosa 79 AD 617460
Retinitis pigmentosa 80 AR 617781
Retinitis Pigmentosa 81 AR 617871
Retinitis pigmentosa 83 AD 618173
Retinitis pigmentosa 84 AR 618220
Retinitis pigmentosa 86 AR 618613
Retinitis pigmentosa 87 with choroidal involvement AD 618697
Retinitis pigmentosa 88 AR 618826
Retinitis Pigmentosa 9 AD 180104
Retinitis Pigmentosa and Erythrocytic Microcytosis AR 616959
Retinitis Pigmentosa with or without Situs Inversus AR 615434
Retinitis pigmentosa with or without skeletal anomalies AR 250410
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness 300455
Retinoschisis 1, X-Linked, Juvenile XL 312700
Rhabdomyosarcoma Alveolar 268220
Rhizomelic Chondrodysplasia Punctata Type 1 AR 215100
Rhizomelic Chondrodysplasia Punctata Type 2 AR 222765
Rhizomelic Chondrodysplasia Punctata, Type 3 AR 600121
Rhizomelic chondrodysplasia punctata, type 5 AR 616716
RHYNS syndrome AR 602152
Right atrial isomerism AR 208530
Ring Dermoid Of Cornea AD 180550
Roberts Syndrome AR 268300
Roberts-SC Phocomelia Syndrome AR 269000
Rothmund-Thomson Syndrome AR 268400
Schizencephaly 269160
Schwannomatosis 1 162091
Sengers syndrome AR 212350
Senior-Loken Syndrome 4 AR 606996
Senior-Loken Syndrome 5 AR 609254
Senior-Loken Syndrome 6 AR 610189
Senior-Loken Syndrome 7 613615
Senior-Loken Syndrome 8 AR 616307
Septooptic Dysplasia AD 182230
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies AR 617763
Short stature, Optic nerve atrophy, and Pelger-Huet anomaly AR 614800
Short-Rib Thoracic Dysplasia 10 with or without Polydactyly AR 615630
Short-rib thoracic dysplasia 18 with polydactyly AR 617866
Short-rib thoracic dysplasia 19 with or without polydactyly AR 617895
Short-Rib Thoracic Dysplasia 2 with or without Polydactyly AR 611263
Short-Rib Thoracic Dysplasia 3 with or without Polydactyly AR 613091
Short-Rib Thoracic Dysplasia 4 with or without Polydactyly AR 613819
Short-Rib Thoracic Dysplasia 5 with or without Polydactyly AR 614376
Short-Rib Thoracic Dysplasia 6 with or without Polydactyly AR 263520
Short-Rib Thoracic Dysplasia 7 with or without Polydactyly AR 614091
Short-Rib Thoracic Dysplasia 9 with or without Polydactyly AR 266920
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay AR 616084
Simpson-Golabi-Behmel Syndrome, Type 2 XL 300209
Single Upper Central Incisor AD 147250
Skin/Hair/Eye Pigmentation, Variation In, 1 AR 227220
Skin/Hair/Eye Pigmentation, Variation In, 3 AD 601800
Skin/Hair/Eye Pigmentation, Variation In, 4 AR 113750
Skin/Hair/Eye Pigmentation, Variation In, 5 AR 227240
Smith-Lemli-Opitz Syndrome AR 270400
Snowflake Vitreoretinal Degeneration AD 193230
Sorsby Fondus Dystrophy AD 136900
Spastic Paraplegia 39 AR 612020
Spastic Paraplegia 42 AD 612539
Spastic Paraplegia 78 AR 617225
Spastic Paraplegia 9A AD 601162
Spastic Paraplegia 9B AR 616586
Spinocerebellar ataxia 34 AD 133190
Spinocerebellar ataxia 46 AD 617770
Spinocerebellar Ataxia 6 AD 183086
Spinocerebellar ataxia, autosomal recessive 7 AR 609270
Spondylocarpotarsal Synostosis Syndrome AR 272460
Spondyloepimetaphyseal Dysplasia Strudwick Type AD 184250
Spondyloepiphyseal Dysplasia Congenita AD 183900
Spondyloepiphyseal Sysplasia, Stanescu Type AD 616583
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy AR 608940
Spondylometaphyseal dysplasia, axial AR 602271
Spondyloperipheral Dysplasia AD 271700
Stargardt Disease 1 AR 248200
Stargardt Disease 3 AD 600110
Stargardt Disease 4 AD 603786
Stickler Syndrome Type 1 AD 108300
Stickler Syndrome, Type 2 AD 604841
Stickler Syndrome, Type 3 AD 184840
Stickler Syndrome, Type 4 614134
Stickler Syndrome, Type 5 AR 614284
Stickler Syndrome, Type I, Nonsyndromic Ocular AD 609508
Stiff Skin Syndrome AD 184900
Stomatin-deficient cryohydrocytosis with neurologic defects AD 608885
Stroke, hemorrhagic 614519
Sveinsson Chorioretinal Atrophy AD 108985
Syndactyly Type 3 AD 186100
Systemic Lupus Erythematosus AD 152700
Temtamy Syndrome AR 218340
Tietz Syndrome AD 103500
Traboulsi syndrome AR 601552
Transposition Of The Great Arteries, Dextro-Looped 3 AD 613854
Trichothiodystrophy Photosensitive AR 601675
Trifunctional Protein Deficiency AR 609015
Trigonocephaly 2 AD 614485
Tyrosinase-Positive Oculocutaneous Albinism AR 203200
Tyrosinemia Type I AR 276700
UDPglucose-4-Epimerase Deficiency AR 230350
Usher Syndrome Type 3B AR 614504
Usher Syndrome, Type 1 AR 276900
Usher Syndrome, Type 1D AR 601067
Usher Syndrome, Type 1F AR 602083
Usher Syndrome, Type 2C AR 605472
Usher Syndrome, Type 2D AR 611383
Usher Syndrome, Type 3 AR 276902
Usher Syndrome, Type Ic AR 276904
Usher Syndrome, Type Ig AR 606943
Usher Syndrome, Type IIa AR 276901
Usher Syndrome, Type IJ AR 614869
UV-Sensitive Syndrome AR 600630
UV-sensitive syndrome 2 AR 614621
VACTERL Association With Hydrocephaly, X-Linked XL 314390
Van Buchem Disease Type 2 AD 607636
Vasculopathy, Retinal, With Cerebral Leukodystrophy AD 192315
Ventricular Septal Defect 3 AD 614432
Vici Syndrome AR 242840
Vitelliform Dystrophy AD 153700
Vitreoretinochoroidopathy Dominant AD 193220
Vitreoretinopathy, Neovascular Inflammatory AD 193235
Vohwinkel syndrome AD 124500
Waardenburg Syndrome Type 1 AD 193500
Waardenburg Syndrome, Type 2A AD 193510
Waardenburg Syndrome, Type 2D AR 608890
Waardenburg Syndrome, Type 2E AD 611584
Waardenburg Syndrome, Type 4A AD 277580
Waardenburg Syndrome, Type 4B AD 613265
Waardenburg Syndrome, Type 4C AD 613266
Wagner Syndrome AD 143200
Walker-Warburg Congenital Muscular Dystrophy AR 236670
Walker-Warburg Congenital Muscular Dystrophy AR 614830
Warburg Micro Syndrome 1 AR 600118
Warburg Micro Syndrome 2 AR 614225
Warburg Micro Syndrome 3 AR 614222
Warburg Micro Syndrome 4 AR 615663
Weill-Marchesani Syndrome 1 AR 277600
Weill-Marchesani Syndrome 2 AD 608328
Weill-Marchesani Syndrome 3 AR 614819
Weyers Acrofacial Dysostosis AD 193530
Wolfram Syndrome 2 AR 604928
Wolfram-Like Syndrome, Autosomal Dominant AD 614296
Worth Disease AD 144750
X-Linked Infantile Nystagmus XL 310700
Xeroderma Pigmentosum Type 7 AR 278780
Xeroderma Pigmentosum, Complementation Group D AR 278730
[Blood group, Langereis system] 111600
[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)] 612271

Related Test

Name
PGxome®
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Panel

Citations

  • Alward. 2000. PubMed ID: 11004268
  • Fahim et al. 2017. PubMed ID: 20301590
  • Goetz et al. 2020. PubMed ID: 32893963
  • Hanany et al. 2020. PubMed ID: 31964843
  • Ito and Walter. 2014. PubMed ID: 24433355
  • Martinez Velazquez and Ballios. 2021. PubMed ID: 34768969
  • Patel et al. 2018. PubMed ID: 30855774
  • Patel et al. 2019. PubMed ID: 30653986
  • Perea-Romero et al. 2021. PubMed ID: 33452396

Ordering/Specimens

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For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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