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 Review Green;GDL Glaucoma panel;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome 1, recessive 15368195;18567016;19836009 False 3 100;0;0 1.47 False ENSG00000142303 ENSG00000142303 HGNC:13201 ADAMTS17 gene ADAMTS17 Expert Review Green;GDL Glaucoma panel;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR) 2268;6506;19836009 False 3 100;0;0 1.47 False ENSG00000140470 ENSG00000140470 HGNC:17109 CPAMD8 gene CPAMD8 Expert Review Green;Literature Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Glaucoma;anterior segment dysgenesis 8, 617319;retinal detachment;cataract DOI: 10.1016/j.ophtha.2019.12.024, PMID: 29556725 False 3 100;0;0 1.47 False ENSG00000160111 ENSG00000160111 HGNC:23228 CREBBP gene CREBBP Expert list;Expert Review Green Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 1, OMIM:180849 25599811 False 3 100;0;0 1.47 False ENSG00000005339 ENSG00000005339 HGNC:2348 CYP1B1 gene CYP1B1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset; 231300; Peters anomaly, 604229; Primary Congenital Glaucoma; Glaucoma 3, Primary Congenital, A; GLC3A;primary congenital glaucoma 9097971;9463332;9497261;12372064 False 3 100;0;0 1.47 False ENSG00000138061 ENSG00000138061 HGNC:2597 DDX58 gene DDX58 Expert Review Green;GDL Glaucoma panel;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Singleton-Merten syndrome 2, OMIM:616298;Singleton-Merten syndrome 2, MONDO:0014575 25620203;30574673;33495304 False 3 75;25;0 1.47 False ENSG00000107201 ENSG00000107201 HGNC:19102 FOXC1 gene FOXC1 Emory Genetics Laboratory;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Axenfeld-Rieger syndrome, type 3 602482;Anterior segment dysgenesis 3, multiple subtypes 601631 9620769;12614756;10713890;11007653;12036988;17210863;32720677 False 3 67;33;0 1.47 False ENSG00000054598 ENSG00000054598 HGNC:3800 FOXE3 gene FOXE3 Emory Genetics Laboratory;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 2, multiple subtypes 610256 11159941;16826526;20361012;21150893;27218149 False 3 67;33;0 1.47 False ENSG00000186790 ENSG00000186790 HGNC:3808 IFIH1 gene IFIH1 Expert list;Expert Review Green Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Singleton-Merten syndrome 1, OMIM:182250 29703882;31898846 False 3 100;0;0 1.47 False ENSG00000115267 ENSG00000115267 HGNC:18873 LMX1B gene LMX1B Expert list;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nail-patella syndrome, OMIM:161200 False 3 33;0;67 1.47 False ENSG00000136944 ENSG00000136944 HGNC:6654 LTBP2 gene LTBP2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Primary Congenital Glaucoma;Glaucoma 3, primary congenital, D 613086" 19361779;21081970;20179738;19656777 False 3 75;25;0 1.47 False ENSG00000119681 ENSG00000119681 HGNC:6715 MYOC gene MYOC Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glaucoma 1A, primary open angle, 137750 9005853;9535666;12522550;9328473;9345106;9697688;10330365 False 3 100;0;0 1.47 False ENSG00000034971 ENSG00000034971 HGNC:7610 OCRL gene OCRL Expert list;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome, OMIM:309000 19168822;33517444 False 3 33;67;0 1.47 False ENSG00000122126 ENSG00000122126 HGNC:8108 PAX6 gene PAX6 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Eye Disorders;aniridia False 3 100;0;0 1.47 False ENSG00000007372 ENSG00000007372 HGNC:8620 PITX2 gene PITX2 Emory Genetics Laboratory;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Anterior segment dysgenesis 4 137600;Axenfeld-Rieger syndrome, type 1 180500" 8944018;9685346;18723525;9618168;10051017;11487566 False 3 67;33;0 1.47 False ENSG00000164093 ENSG00000164093 HGNC:9005 SBF2 gene SBF2 Expert Review Green;GDL Glaucoma panel;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B2, OMIM:604563;CMT with early onset glaucoma 12687498;15304601 False 3 75;25;0 1.47 False ENSG00000133812 ENSG00000133812 HGNC:2135 SH3PXD2B gene SH3PXD2B Expert list;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Frank-ter Haar syndrome, OMIM:249420 20137777;29100834 False 3 100;0;0 1.47 False ENSG00000174705 ENSG00000174705 HGNC:29242 TEK gene TEK Expert list;Expert Review Green Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glaucoma 3, primary congenital, E, OMIM:617272 27270174 False 3 100;0;0 1.47 False ENSG00000120156 ENSG00000120156 HGNC:11724 GJA1 gene GJA1 Expert Review Amber;Expert Review Green;GDL Glaucoma panel;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculodentodigital dysplasia, OMIM:164200 25976645;21273537;34035645 False 2 67;33;0 1.47 False ENSG00000152661 ENSG00000152661 HGNC:4274