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 CHST6 gene CHST6 Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Macular corneal dystrophy 217800 15013869;11818380;11017086 False 3 100;0;0 4.7 False ENSG00000183196 ENSG00000183196 HGNC:6938 COL17A1 gene COL17A1 Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epithelial recurrent erosion dystrophy, OMIM:122400 25564336;19710953;14562173 False 3 100;0;0 4.7 False ENSG00000065618 ENSG00000065618 HGNC:2194 COL8A2 gene COL8A2 Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, Fuchs endothelial, 1 136800;Corneal dystrophy, posterior polymorphous 2 609140 11689488 False 3 100;0;0 4.7 False ENSG00000171812 ENSG00000171812 HGNC:2216 DCN gene DCN Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, congenital stromal 610048 24413633;15671264;16935612 False 3 100;0;0 4.7 False ENSG00000011465 ENSG00000011465 HGNC:2705 GRHL2 gene GRHL2 Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, posterior polymorphous, 4, OMIM:618031 29499165 False 3 100;0;0 4.7 False ENSG00000083307 ENSG00000083307 HGNC:2799 GSN gene GSN Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, Finnish type, OMIM:105120 2153578;1652889;8388189 False 3 100;0;0 4.7 False ENSG00000148180 ENSG00000148180 HGNC:4620 KERA gene KERA Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cornea plana 2 217300 23834557;11726611;10802664 False 3 100;0;0 4.7 False ENSG00000139330 ENSG00000139330 HGNC:6309 KRT12 gene KRT12 Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Meesmann corneal dystrophy 122100 9171931;10644419;8759347 False 3 100;0;0 4.7 False ENSG00000187242 ENSG00000187242 HGNC:6414 KRT3 gene KRT3 Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Meesmann corneal dystrophy 122100 9171831;188806880;16227835 False 3 100;0;0 4.7 False ENSG00000186442 ENSG00000186442 HGNC:6440 LCAT gene LCAT Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Fish-eye disease 136120;Norum disease 245900 1859405;2370048;1681161 False 3 100;0;0 4.7 False ENSG00000213398 ENSG00000213398 HGNC:6522 LTBP2 gene LTBP2 Expert Review Green;Literature;NHS GMS Corneal dystrophy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, OMIM:251750;Glaucoma 3, primary congenital, D, OMIM:613086;Weill-Marchesani syndrome 3, recessive, OMIM:614819 19656777;19361779;21081970;20179738;22539340;20617341;22025892 False 3 100;0;0 4.7 False ENSG00000119681 ENSG00000119681 HGNC:6715 OVOL2 gene OVOL2 Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, posterior polymorphous, 1 122000 26749309 False 3 100;0;0 4.7 False ENSG00000125850 ENSG00000125850 HGNC:15804 PIKFYVE gene PIKFYVE Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal fleck dystrophy 121850 26396486;15902656;23288988 False 3 100;0;0 4.7 False ENSG00000115020 ENSG00000115020 HGNC:23785 PRDM5 gene PRDM5 Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Brittle cornea syndrome 614170 22122778;21664999 False 3 100;0;0 4.7 False ENSG00000138738 ENSG00000138738 HGNC:9349 SLC4A11 gene SLC4A11 Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Corneal dystrophy, Fuchs endothelial, 4 613268;Corneal endothelial dystrophy and perceptive deafness 217400;Corneal endothelial dystrophy, autosomal recessive 217700 16767101;16825429 False 3 100;0;0 4.7 False ENSG00000088836 ENSG00000088836 HGNC:16438 STS gene STS Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Ichthyosis, X-linked 1539590;3169744;9252398 False 3 100;0;0 4.7 False ENSG00000101846 ENSG00000101846 HGNC:11425 TACSTD2 gene TACSTD2 Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Corneal dystrophy, gelatinous drop-like 204870 17898270;10192395 False 3 100;0;0 4.7 False ENSG00000184292 ENSG00000184292 HGNC:11530 TCF4 gene TCF4 Expert list;Expert Review Green Corneal dystrophy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267 29526280;26401622;24255041;25168903;25722209;25593321;34946867 False 3 50;0;50 4.7 False ENSG00000196628 ENSG00000196628 HGNC:11634 TGFBI gene TGFBI Expert Review Green;NHS GMS;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Corneal dystrophy, Groenouw type I 121900;Corneal dystrophy, Avellino type 607541;Corneal dystrophy, Thiel-Behnke type 602082;Corneal dystrophy, lattice type I 122200;Corneal dystrophy, Reis-Bucklers type 608470;Corneal dystrophy, epithelial basement membrane 121820;Corneal dystrophy, lattice type IIIA 608471 17962451;23169578;17668063 False 3 100;0;0 4.7 False ENSG00000120708 ENSG00000120708 HGNC:11771 UBIAD1 gene UBIAD1 Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, Schnyder type 121800 17962451;18176953;17668063 False 3 100;0;0 4.7 False ENSG00000120942 ENSG00000120942 HGNC:30791 ZEB1 gene ZEB1 Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, posterior polymorphous, 3 609141;Corneal dystrophy, Fuchs endothelial, 6 613270 2003649;16252232 False 3 100;0;0 4.7 False ENSG00000148516 ENSG00000148516 HGNC:11642 ZNF469 gene ZNF469 Expert Review Green;Wessex and West Midlands GLH Corneal dystrophy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Brittle cornea syndrome 1 229200 20938016;19661234;18452888 False 3 100;0;0 4.7 False ENSG00000225614 ENSG00000225614 HGNC:23216