Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ADAMTS18 gene ADAMTS18 Expert Review Green;GDL Corneal Abnormalities panel;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 22686506;23818446 False 3 100;0;0 1.14 False ENSG00000140873 ENSG00000140873 HGNC:17110 ALDH18A1 gene ALDH18A1 Expert Review Green;GDL Corneal Abnormalities panel Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "cutis laxa, corneal clouding, and mental retardation;Cutis laxa, autosomal dominant 3 616603;Cutis laxa, autosomal recessive, type IIIA 219150" 18388779 False 3 100;0;0 1.14 False ENSG00000059573 ENSG00000059573 HGNC:9722 B3GLCT gene B3GLCT Expert Review Green;GDL Corneal Abnormalities panel Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Peters-plus syndrome 261540" 16909395;18798333;19796186 False 3 100;0;0 1.14 False ENSG00000187676 ENSG00000187676 HGNC:20207 CHRDL1 gene CHRDL1 Expert Review Green;GDL Corneal Abnormalities panel;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Megalocornea 1, X-linked 309300;X-linked megalocornea but can also cause lens subluxation or dislocation 22284829;25093588;25712132 False 3 100;0;0 1.14 False ENSG00000101938 ENSG00000101938 HGNC:29861 CHST6 gene CHST6 Expert Review Green;GDL Corneal Abnormalities panel;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Macular Corneal Dystrophy;Macular corneal dystrophy 217800;Paediatric Macular corneal dystrophy (type 1 and type 2), AR" 11017086;15013869 False 3 100;0;0 1.14 False ENSG00000183196 ENSG00000183196 HGNC:6938 COL8A2 gene COL8A2 Expert Review Green;GDL Corneal Abnormalities panel;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, Fuchs endothelial, 1, 136800;early onset fuchs endothelial corneal dystrophy 11689488;22002996;15914606;18024822;18464802 False 3 100;0;0 1.14 False ENSG00000171812 ENSG00000171812 HGNC:2216 DCN gene DCN Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Corneal dystrophy, congenital stromal 610048" False 3 0;0;0 1.14 False ENSG00000011465 ENSG00000011465 HGNC:2705 GJA1 gene GJA1 Expert Review Green;GDL Corneal Abnormalities panel Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculodentodigital dysplasia, OMIM:164200;Oculodentodigital dysplasia, autosomal recessive, OMIM:257850 12457340;16816024;15108203;15551259;15637728;16709485;17256797;14974090;21670345;23550541 False 3 100;0;0 1.14 False ENSG00000152661 ENSG00000152661 HGNC:4274 GSN gene GSN Expert Review;Expert Review Green Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, Finnish type, OMIM:105120 1658654; 4543600; 6610849 False 3 100;0;0 1.14 False ENSG00000148180 ENSG00000148180 HGNC:4620 HMX1 gene HMX1 Expert Review Green;GDL Corneal Abnormalities panel Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Oculoauricular syndrome 612109" 18423520;25574057;21417677;19379485 False 3 100;0;0 1.14 False ENSG00000215612 ENSG00000215612 HGNC:5017 KERA gene KERA Expert Review Green;GDL Corneal Abnormalities panel;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Cornea plana 2, autosomal recessive 217300" 10802664;23834557;11726611;15370545;23834557 False 3 100;0;0 1.14 False ENSG00000139330 ENSG00000139330 HGNC:6309 KRT12 gene KRT12 Expert Review Green;GDL Corneal Abnormalities panel;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Meesmann corneal dystrophy, 122100 9171831;10644419;9171831;9399908;22174841 False 3 100;0;0 1.14 False ENSG00000187242 ENSG00000187242 HGNC:6414 KRT3 gene KRT3 Expert Review Green;GDL Corneal Abnormalities panel;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Meesmann corneal dystrophy, 122100 18806880;9171831;16227835 False 3 100;0;0 1.14 False ENSG00000186442 ENSG00000186442 HGNC:6440 LTBP2 gene LTBP2 Expert Review Green;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 251750" False 3 0;0;0 1.14 False ENSG00000119681 ENSG00000119681 HGNC:6715 MAF gene MAF Expert Review Green;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cataract, pulverulent or cerulean, with or without microcornea, 610202;Cataract 21, multiple types 610202" 11772997;17982426 False 3 0;0;0 1.14 False ENSG00000178573 ENSG00000178573 HGNC:6776 MIR184 gene MIR184 Expert Review Green;GDL Corneal Abnormalities panel Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMAL THINNING SYNDROME;EDICT syndrome 614303;Keratoconus" "21996275;22131394;25373792;24138095;23833072;21996275;Lechner et al (2013) Invest Ophthalmol Vis Sci 54:5266-5372;Hughes et al (2013) IOVS 54:5266;27195078 - +39G >T identified in two Iranian sisters with keratoconus was also found at a similar frequency in patients vs controls (PMID: 23833072). The parents were not screened genetically. This publication concluded ""Mutations in MIR-184 are not a major cause of keratoconus among Iranian patients. The pri-miR-184 sequence needs to be screened in larger cohorts in order to establish whether mutations in the gene are present at low frequencies among Iranian patients."";26380287 - No mutation(s) within the screened genomic region of MIR184 in Keratoconus cases were detected." False 3 100;0;0 1.14 False ENSG00000207695 ENSG00000207695 HGNC:31555 OVOL2 gene OVOL2 Expert Review Green;GDL Corneal Abnormalities panel Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Corneal dystrophy, posterior polymorphous, 1 122000" 26749309 False 3 100;0;0 1.14 False Other - please provide details in the comments ENSG00000125850 ENSG00000125850 HGNC:15804 PIK3R1 gene PIK3R1 Expert Review Green;GDL Corneal Abnormalities panel Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "SHORT syndrome 269880" 23810378 False 3 100;0;0 1.14 False ENSG00000145675 ENSG00000145675 HGNC:8979 PIKFYVE gene PIKFYVE Expert Review Green;GDL Corneal Abnormalities panel;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal fleck dystrophy 121850;Corneal fleck dystrophy, AD, paediatric 15902656;23288988;26396486 False 3 100;0;0 1.14 False ENSG00000115020 ENSG00000115020 HGNC:23785 PITX2 gene PITX2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Anterior segment dysgenesis 4 137600 AD;Axenfeld-Rieger syndrome, type 1 180500 AD;Ring dermoid of cornea 180550" False 3 0;0;0 1.14 False ENSG00000164093 ENSG00000164093 HGNC:9005 PRDM5 gene PRDM5 Expert Review Green;GDL Corneal Abnormalities panel;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Brittle Cornea Syndrome;Brittle cornea syndrome 2, 614170 21664999;22122778 False 3 100;0;0 1.14 False ENSG00000138738 ENSG00000138738 HGNC:9349 RAB18 gene RAB18 Expert Review Green;GDL Corneal Abnormalities panel Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3 614222 21473985 False 3 100;0;0 1.14 False ENSG00000099246 ENSG00000099246 HGNC:14244 RAB3GAP1 gene RAB3GAP1 Expert Review Green;GDL Corneal Abnormalities panel Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Warburg micro syndrome 1 600118" 15696165 False 3 100;0;0 1.14 False ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Green;GDL Corneal Abnormalities panel Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome 1, OMIM:212720;Warburg micro syndrome 2, OMIM:614225 16532399;20967465 False 3 100;0;0 1.14 False ENSG00000118873 ENSG00000118873 HGNC:17168 SLC16A12 gene SLC16A12 Expert Review Green;GDL Corneal Abnormalities panel;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract, juvenile, with microcornea and glucosuria, 612018 18304496 False 3 100;0;0 1.14 False ENSG00000152779 ENSG00000152779 HGNC:23094 SLC4A11 gene SLC4A11 Expert Review Green;GDL Corneal Abnormalities panel;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Corneal Dystrophy, Recessive;Corneal endothelial dystrophy 2, autosomal recessive, 217700;Congenital Hereditary Endothelial Dystrophy 16825429;18024964;16767101 False 3 100;0;0 1.14 False ENSG00000088836 ENSG00000088836 HGNC:16438 TACSTD2 gene TACSTD2 Expert Review Green;GDL Corneal Abnormalities panel;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Corneal Dystrophy, Dominant/Recessive;Corneal dystrophy, gelatinous drop-like, 204870 7665234;10192395 False 3 100;0;0 1.14 False ENSG00000184292 ENSG00000184292 HGNC:11530 TGFBI gene TGFBI Eligibility statement prior genetic testing;Expert Review Green;GDL Corneal Abnormalities panel;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Corneal dystrophy, Avellino type 607541;Corneal dystrophy, epithelial basement membrane 121820;Corneal dystrophy, Groenouw type I 121900;Corneal dystrophy, lattice type I 122200;Corneal dystrophy, lattice type IIIA 608471;Corneal dystrophy, Reis-Bucklers type 608470;Corneal dystrophy, Thiel-Behnke type 602082" 11146721;15531312;16652336;9780098;9727509;31322463;30830990;32952948 False 3 100;0;0 1.14 False ENSG00000120708 ENSG00000120708 HGNC:11771 UBIAD1 gene UBIAD1 Expert Review Green;GDL Corneal Abnormalities panel;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Schnyder Crystalline Corneal Dystrophy;Corneal dystrophy, Schnyder type 121800;Schnyder corneal dystrophy , AD, early onset" 17962451 False 3 100;0;0 1.14 False ENSG00000120942 ENSG00000120942 HGNC:30791 VSX1 gene VSX1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Keratoconus 1 148300" False 3 0;0;0 1.14 False ENSG00000100987 ENSG00000100987 HGNC:12723 ZEB1 gene ZEB1 Expert Review Green;GDL Corneal Abnormalities panel;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, posterior polymorphous, 3, 609141;Posterior polymorphous corneal dystrophy 3 (PPCD3), AD;Fuchs endothelial corneal dystrophy 12654361;20036349 False 3 100;0;0 1.14 False ENSG00000148516 ENSG00000148516 HGNC:11642 ZNF469 gene ZNF469 Expert Review Green;GDL Corneal Abnormalities panel;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Brittle cornea syndrome, 229200 18452888;19661234;20938016 False 3 100;0;0 1.14 False ENSG00000225614 ENSG00000225614 HGNC:23216 AGBL1 gene AGBL1 Expert Review Amber;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Corneal dystrophy, Fuchs endothelial, 8, 615523 (3) 24094747 False 2 0;0;0 1.14 False ENSG00000166748 ENSG00000273540 HGNC:26504 ABCA3 gene ABCA3 Expert Review Red;GDL Corneal Abnormalities panel Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract-microcornea syndrome 25406294 False 1 100;0;0 1.14 False ENSG00000167972 ENSG00000167972 HGNC:33 APOA1 gene APOA1 Expert Review Red;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Corneal clouding, autosomal recessive;Familial LCAT deficiency 1898657;22755272;20616715;19515369;17991756;10073988 False 1 0;0;100 1.14 False ENSG00000118137 ENSG00000118137 HGNC:600 BEST1 gene BEST1 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders Best Vitelliform Macular Dystrophy (BVMD), Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC), Additional features include congenital or early-onset cataracts, microcornea, hypermetrophic, and shallow anterior chamber, Autosomal Recessive Bestrophinopathy (ARB);Best macular dystrophy, 153700 False 1 0;0;0 1.14 False ENSG00000167995 ENSG00000167995 HGNC:12703 CYP4V2 gene CYP4V2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Bietti crystalline corneoretinal dystrophy 210370" False 1 0;0;0 1.14 False ENSG00000145476 ENSG00000145476 HGNC:23198 GJA8 gene GJA8 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract-Microcornea Syndrome 16604058;17724170 False 1 0;0;0 1.14 False ENSG00000121634 ENSG00000121634 HGNC:4281 GLS gene GLS Expert Review Red;GDL Corneal Abnormalities panel Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders Unknown Corneal dystrophy abstract http://www.arvo.org/webs/am2015/abstract/304.pdf False 1 0;0;100 1.14 False ENSG00000115419 ENSG00000115419 HGNC:4331 LAMB2 gene LAMB2 Expert Review Red;GDL Corneal Abnormalities panel Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Pierson syndrome 609049" 15367484;14136829;16097004 False 1 100;0;0 1.14 False ENSG00000172037 ENSG00000172037 HGNC:6487 MED25 gene MED25 Expert Review Red;GDL Corneal Abnormalities panel Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Basel-Vanagait-Smirin-Yosef syndrome 616449" 25792360;25527630 False 1 100;0;0 1.14 False ENSG00000104973 ENSG00000104973 HGNC:28845 PAX6 gene PAX6 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Morning glory disc anomaly 120430;Aniridia 106210;Cataract with late-onset corneal dystrohpy 106210;Coloboma of optic nerve 120430;Coloboma ocular 120200;Foveal hypoplasia 1 136520;Gillespie syndrome 206700;Keratitis 148190;Optic nerve hypoplasia 165550;Peters anomaly 604229;Anterior segment dysgenesis 5, multiple subtypes 604229 3234463;4395516;2855731 False 1 0;0;0 1.14 False Other - please provide details in the comments ENSG00000007372 ENSG00000007372 HGNC:8620 PDGFRB gene PDGFRB Literature Corneal abnormalities Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 33450762 False 1 0;0;100 1.14 False ENSG00000113721 ENSG00000113721 HGNC:8804