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 ADAMTS10 gene ADAMTS10 Expert list;Expert Review Green Glaucoma congenital Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Weill-Marchesani syndrome 1, recessive, MIM# 277600" Glaucoma;HP:0000501 False 3 100;0;0 1.9 True ENSG00000142303 ENSG00000142303 HGNC:13201 ADAMTS17 gene ADAMTS17 Expert list;Expert Review Green Glaucoma congenital Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Weill-Marchesani 4 syndrome, recessive, MIM# 613195" Glaucoma;HP:0000501 False 3 100;0;0 1.9 True ENSG00000140470 ENSG00000140470 HGNC:17109 CPAMD8 gene CPAMD8 Expert list;Expert Review Green Glaucoma congenital Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Anterior segment dysgenesis 8, MIM# 617319" Glaucoma;HP:0000501 29556725 False 3 100;0;0 1.9 True ENSG00000160111 ENSG00000160111 HGNC:23228 CREBBP gene CREBBP Expert Review Green;Victorian Clinical Genetics Services Glaucoma congenital Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 1, MIM# 180849 Glaucoma;HP:0000501 False 3 100;0;0 1.9 True ENSG00000005339 ENSG00000005339 HGNC:2348 CYP1B1 gene CYP1B1 Expert Review Green;Victorian Clinical Genetics Services Glaucoma congenital Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300 Glaucoma;HP:0000501 9463332;10655546;12372064;21081970 False 3 100;0;0 1.9 True ENSG00000138061 ENSG00000138061 HGNC:2597 DDX58 gene DDX58 Expert list;Expert Review Green Glaucoma congenital Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Singleton-Merten syndrome 2, MIM# 616298" Glaucoma;HP:0000501 25620203;30574673;33495304 False 3 50;50;0 1.9 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000107201 ENSG00000107201 HGNC:19102 EFEMP1 gene EFEMP1 Expert Review Green;Literature Glaucoma congenital Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glaucoma 1, open angle, H, MIM# 611276 Glaucoma;HP:0000501 34923728 False 3 100;0;0 1.9 True ENSG00000115380 ENSG00000115380 HGNC:3218 FOXC1 gene FOXC1 Expert Review Green;Victorian Clinical Genetics Services Glaucoma congenital Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Axenfeld-Rieger syndrome, type 3, MIM# 602482 Glaucoma;HP:0000501 False 3 100;0;0 1.9 True ENSG00000054598 ENSG00000054598 HGNC:3800 IFIH1 gene IFIH1 Expert list;Expert Review Green Glaucoma congenital Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Singleton-Merten syndrome 1, MIM# 182250" Glaucoma;HP:0000501 False 3 100;0;0 1.9 True ENSG00000115267 ENSG00000115267 HGNC:18873 LMX1B gene LMX1B Expert Review Green;Victorian Clinical Genetics Services Glaucoma congenital Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nail-patella syndrome, MIM# 161200 Glaucoma;HP:0000501 False 3 100;0;0 1.9 True ENSG00000136944 ENSG00000136944 HGNC:6654 LTBP2 gene LTBP2 Expert Review Green;Victorian Clinical Genetics Services Glaucoma congenital Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Glaucoma 3, primary congenital, D 613086;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750 Glaucoma;HP:0000501 19656777;19361779;20617341;32165823;30380740;30565850 False 3 100;0;0 1.9 True ENSG00000119681 ENSG00000119681 HGNC:6715 MYOC gene MYOC Expert Review Green;Victorian Clinical Genetics Services Glaucoma congenital Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glaucoma 1A, primary open angle, MIM# 137750 Glaucoma;HP:0000501 9535666 False 3 100;0;0 1.9 True ENSG00000034971 ENSG00000034971 HGNC:7610 OCRL gene OCRL Expert list;Expert Review Green Glaucoma congenital Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Lowe syndrome, MIM# 309000" Glaucoma;HP:0000501 False 3 100;0;0 1.9 True ENSG00000122126 ENSG00000122126 HGNC:8108 PAX6 gene PAX6 Expert Review Green;Victorian Clinical Genetics Services Glaucoma congenital Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment dysgenesis 5, multiple subtypes, MIM# 604229 Glaucoma;HP:0000501 False 3 100;0;0 1.9 True ENSG00000007372 ENSG00000007372 HGNC:8620 PIK3R1 gene PIK3R1 Expert Review Green;Victorian Clinical Genetics Services Glaucoma congenital Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHORT syndrome, MIM# 269880 Glaucoma;HP:0000501 False 3 100;0;0 1.9 True ENSG00000145675 ENSG00000145675 HGNC:8979 PITX2 gene PITX2 Expert Review Green;Victorian Clinical Genetics Services Glaucoma congenital Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Axenfeld-Rieger syndrome, type 1, MIM# 180500 Glaucoma;HP:0000501 8944018;31185933;29023440 False 3 100;0;0 1.9 True ENSG00000164093 ENSG00000164093 HGNC:9005 POMGNT1 gene POMGNT1 Expert list;Expert Review Green Glaucoma congenital Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280" Glaucoma;HP:0000501 False 3 100;0;0 1.9 True ENSG00000085998 ENSG00000085998 HGNC:19139 POMT1 gene POMT1 Expert Review Green;Victorian Clinical Genetics Services Glaucoma congenital Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670 Glaucoma;HP:0000501 False 3 100;0;0 1.9 True ENSG00000130714 ENSG00000130714 HGNC:9202 SBF2 gene SBF2 Expert Review Green;Victorian Clinical Genetics Services Glaucoma congenital Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B2, MIM# 604563 Glaucoma;HP:0000501 12687498;15304601 False 3 100;0;0 1.9 True ENSG00000133812 ENSG00000133812 HGNC:2135 SH3PXD2B gene SH3PXD2B Expert Review Green;Victorian Clinical Genetics Services Glaucoma congenital Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Frank-ter Haar syndrome, MIM# 249420 Glaucoma;HP:0000501 False 3 100;0;0 1.9 True ENSG00000174705 ENSG00000174705 HGNC:29242 TEK gene TEK Expert Review Green;Victorian Clinical Genetics Services Glaucoma congenital Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glaucoma 3, primary congenital, E, MIM# 617272 Glaucoma;HP:0000501 27270174 False 3 100;0;0 1.9 True ENSG00000120156 ENSG00000120156 HGNC:11724 THBS1 gene THBS1 Expert Review Green;Literature Glaucoma congenital Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital glaucoma MONDO:0020366, THBS1-related Glaucoma;HP:0000501 36453543 False 3 100;0;0 1.9 True ENSG00000137801 ENSG00000137801 HGNC:11785