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 ADAMTSL4 gene ADAMTSL4 Expert Review Green;Literature Eye Anterior Segment Abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ectopia lentis et pupillae, AR (MIM#225200);Isolated ectopia lentis, autosomal recessive, AR (MIM#225100), Craniosynostosis with ectopia lentis, AR (MONDO#0011347) Abnormal anterior eye segment morphology;HP:0004328 False 3 100;0;0 1.12 True ENSG00000143382 ENSG00000143382 HGNC:19706 ASPH gene ASPH Expert Review Green;Literature Eye Anterior Segment Abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Traboulsi syndrome , MIM#601552 Abnormal anterior eye segment morphology;HP:0004328 PMID: 24768550, 30194805, 34018898, 35918038 False 3 100;0;0 1.12 True ENSG00000198363 ENSG00000198363 HGNC:757 B3GLCT gene B3GLCT Expert Review Green;Victorian Clinical Genetics Services Eye Anterior Segment Abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome, MIM# 261540 Abnormal anterior eye segment morphology;HP:0004328 18798333;19796186;32533185;32204707;31795264 False 3 100;0;0 1.12 True ENSG00000187676 ENSG00000187676 HGNC:20207 BMP4 gene BMP4 Expert Review Green;Victorian Clinical Genetics Services Eye Anterior Segment Abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 6, MIM# 607932;Anterior segment dysgenesis;Peter's anomaly Abnormal anterior eye segment morphology;HP:0004328 32224865;31053785 False 3 100;0;0 1.12 True ENSG00000125378 ENSG00000125378 HGNC:1071 COL4A1 gene COL4A1 Expert Review Green;Literature Eye Anterior Segment Abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773;Brain small vessel disease with or without ocular anomalies 175780;Microangiopathy and leukoencephalopathy, pontine 618564 Abnormal anterior eye segment morphology;HP:0004328 21730847;16598045;16107487;20385946 False 3 100;0;0 1.12 True ENSG00000187498 ENSG00000187498 HGNC:2202 CPAMD8 gene CPAMD8 Expert Review Green;Victorian Clinical Genetics Services Eye Anterior Segment Abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis Abnormal anterior eye segment morphology;HP:0004328 32274568 False 3 100;0;0 1.12 True ENSG00000160111 ENSG00000160111 HGNC:23228 CYP1B1 gene CYP1B1 Expert Review Green;Victorian Clinical Genetics Services Eye Anterior Segment Abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315 Abnormal anterior eye segment morphology;HP:0004328 32499604;32224865 False 3 100;0;0 1.12 True ENSG00000138061 ENSG00000138061 HGNC:2597 FBN1 gene FBN1 Expert Review Green;Literature Eye Anterior Segment Abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ectopia lentis, familial (MIM#129600) Abnormal anterior eye segment morphology;HP:0004328 False 3 100;0;0 1.12 True ENSG00000166147 ENSG00000166147 HGNC:3603 FOXC1 gene FOXC1 Expert Review Green;Victorian Clinical Genetics Services Eye Anterior Segment Abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment dysgenesis 3, multiple subtypes, MIM# 601631;Axenfeld-Rieger syndrome, type 3, MIM# 602482 Abnormal anterior eye segment morphology;HP:0004328 False 3 100;0;0 1.12 True ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC2 gene FOXC2 Expert Review Green;Literature Eye Anterior Segment Abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphedema-distichiasis syndrome 153400 Abnormal anterior eye segment morphology;HP:0004328 12766066;21730847 False 3 100;0;0 1.12 True ENSG00000176692 ENSG00000176692 HGNC:3801 FOXE3 gene FOXE3 Expert Review Green;Victorian Clinical Genetics Services Eye Anterior Segment Abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256 Abnormal anterior eye segment morphology;HP:0004328 16826526;27218149;32499604;29878917 False 3 100;0;0 1.12 True ENSG00000186790 ENSG00000186790 HGNC:3808 GJA8 gene GJA8 Expert Review;Expert Review Green Eye Anterior Segment Abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 1, multiple types, MIM# 116200;Microphthalmia;Anterior segment dysgenesis Abnormal anterior eye segment morphology;HP:0004328 30498267;29464339;32499604 False 3 100;0;0 1.12 True ENSG00000121634 ENSG00000121634 HGNC:4281 ITPR1 gene ITPR1 Expert Review Green;Victorian Clinical Genetics Services Eye Anterior Segment Abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Gillespie syndrome, MIM# 206700 Abnormal anterior eye segment morphology;HP:0004328 27108797;31340402;30242502;29169895 False 3 100;0;0 1.12 True ENSG00000150995 ENSG00000150995 HGNC:6180 JAG1 gene JAG1 Expert Review Green;Literature Eye Anterior Segment Abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 118450 Abnormal anterior eye segment morphology;HP:0004328 21730847;10051485;18097983;9951486 False 3 100;0;0 1.12 True ENSG00000101384 ENSG00000101384 HGNC:6188 LAMB2 gene LAMB2 Expert Review Green;Literature Eye Anterior Segment Abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Pierson syndrome 609049 Abnormal anterior eye segment morphology;HP:0004328 21730847;18672223;15367484;20556798 False 3 100;0;0 1.12 True ENSG00000172037 ENSG00000172037 HGNC:6487 LTBP2 gene LTBP2 Expert Review Green;Literature Eye Anterior Segment Abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma MIM#251750 Abnormal anterior eye segment morphology;HP:0004328 False 3 100;0;0 1.12 True ENSG00000119681 ENSG00000119681 HGNC:6715 PAX6 gene PAX6 Expert Review Green;Victorian Clinical Genetics Services Eye Anterior Segment Abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aniridia MIM# 106210;Anterior segment dysgenesis 5, multiple subtypes MIM# 6042293;Cataract with late-onset corneal dystrophy MIM# 106210;Foveal hypoplasia 1 MIM# 136520;Keratitis MIM# 148190;Optic nerve hypoplasia MIM# 165550 Abnormal anterior eye segment morphology;HP:0004328 27081561;20132240;26899008 False 3 100;0;0 1.12 True ENSG00000007372 ENSG00000007372 HGNC:8620 PIK3R1 gene PIK3R1 Expert Review Green;Victorian Clinical Genetics Services Eye Anterior Segment Abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHORT syndrome, MIM# 269880 Abnormal anterior eye segment morphology;HP:0004328 23810378;23810379;23810382 False 3 100;0;0 1.12 True ENSG00000145675 ENSG00000145675 HGNC:8979 PITX2 gene PITX2 Expert Review Green;Victorian Clinical Genetics Services Eye Anterior Segment Abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment dysgenesis 4, MIM# 137600;Axenfeld-Rieger syndrome, type 1, MIM# 180500 Abnormal anterior eye segment morphology;HP:0004328 32499604;32400113;31341655;31185933;30457409 False 3 100;0;0 1.12 True ENSG00000164093 ENSG00000164093 HGNC:9005 PITX3 gene PITX3 Expert Review Green;Victorian Clinical Genetics Services Eye Anterior Segment Abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250 Abnormal anterior eye segment morphology;HP:0004328 9620774;29405783;24555714 False 3 100;0;0 1.12 True ENSG00000107859 ENSG00000107859 HGNC:9006 PXDN gene PXDN Expert Review Green;Victorian Clinical Genetics Services Eye Anterior Segment Abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400 Abnormal anterior eye segment morphology;HP:0004328 21907015;24939590;32499604;32224865;32015378;31817535 False 3 100;0;0 1.12 True ENSG00000130508 ENSG00000130508 HGNC:14966 SOX2 gene SOX2 Expert Review Green;Literature Eye Anterior Segment Abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peters' anomaly, no OMIM #;Microphthalmia, syndromic 3, OMIM # 206900;Optic nerve hypoplasia and abnormalities of the central nervous system, OMIM # 206900 Abnormal anterior eye segment morphology;HP:0004328 PMID: 35170016 False 3 100;0;0 1.12 False ENSG00000181449 ENSG00000181449 HGNC:11195 COL6A3 gene COL6A3 Expert Review Amber;Literature Eye Anterior Segment Abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peters anomaly Abnormal anterior eye segment morphology;HP:0004328 33304895 False 2 0;100;0 1.12 True ENSG00000163359 ENSG00000163359 HGNC:2213 CRYAA gene CRYAA Expert Review;Expert Review Amber Eye Anterior Segment Abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment dysgenesis Abnormal anterior eye segment morphology;HP:0004328 32791987 False 2 0;100;0 1.12 True Other ENSG00000160202 ENSG00000160202 HGNC:2388