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 ABCA4 gene ABCA4 Emory Genetics Laboratory;Expert Review Red;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000198691 ENSG00000198691 HGNC:34 ABHD12 gene ABHD12 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000100997 ENSG00000100997 HGNC:15868 ADAM9 gene ADAM9 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000168615 ENSG00000168615 HGNC:216 ADGRV1 gene ADGRV1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000164199 ENSG00000164199 HGNC:17416 AHI1 gene AHI1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000135541 ENSG00000135541 HGNC:21575 AIPL1 gene AIPL1 Emory Genetics Laboratory;Expert Review Amber;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;100;0 1.47 False ENSG00000129221 ENSG00000129221 HGNC:359 ALMS1 gene ALMS1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000116127 ENSG00000116127 HGNC:428 ARL13B gene ARL13B Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000113966 ENSG00000113966 HGNC:13210 ASB10 gene ASB10 NHS GMS;Radboud University Medical Center, Nijmegen Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Glaucoma 1, open angle, F, 603383 False 1 0;0;100 1.47 False ENSG00000146926 ENSG00000146926 HGNC:17185 ATOH7 gene ATOH7 Expert Review Green;Expert Review Red;GDL Glaucoma panel;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment 1838;8779 False 1 67;33;0 1.47 False ENSG00000179774 ENSG00000179774 HGNC:13907 ATP13A2 gene ATP13A2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000159363 ENSG00000159363 HGNC:30213 B3GLCT gene B3GLCT Emory Genetics Laboratory;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000187676 ENSG00000187676 HGNC:20207 BBS1 gene BBS1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000122507 ENSG00000122507 HGNC:30000 BCOR gene BCOR Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000183337 ENSG00000183337 HGNC:20893 BEST1 gene BEST1 Emory Genetics Laboratory;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000167995 ENSG00000167995 HGNC:12703 BMP4 gene BMP4 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 50;50;0 1.47 False ENSG00000125378 ENSG00000125378 HGNC:1071 C1QTNF5 gene C1QTNF5 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000223953 ENSG00000223953 HGNC:14344 C2orf71 gene C2orf71 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000179270 ENSG00000179270 HGNC:34383 C5orf42 gene C5orf42 Emory Genetics Laboratory;London North GLH;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 33;0;67 1.47 False ENSG00000197603 ENSG00000197603 HGNC:25801 C8orf37 gene C8orf37 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000156172 ENSG00000156172 HGNC:27232 CA4 gene CA4 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000167434 ENSG00000167434 HGNC:1375 CABP4 gene CABP4 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000175544 ENSG00000175544 HGNC:1386 CACNA1F gene CACNA1F Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000102001 ENSG00000102001 HGNC:1393 CACNA2D4 gene CACNA2D4 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000151062 ENSG00000151062 HGNC:20202 CC2D2A gene CC2D2A Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000048342 ENSG00000048342 HGNC:29253 CDH23 gene CDH23 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000107736 ENSG00000107736 HGNC:13733 CDH3 gene CDH3 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000062038 ENSG00000062038 HGNC:1762 CDHR1 gene CDHR1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000148600 ENSG00000148600 HGNC:14550 CEP290 gene CEP290 Emory Genetics Laboratory;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000106477 ENSG00000106477 HGNC:12370 CERKL gene CERKL Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000188452 ENSG00000188452 HGNC:21699 CHM gene CHM Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000188419 ENSG00000188419 HGNC:1940 CIB2 gene CIB2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000136425 ENSG00000136425 HGNC:24579 CLN3 gene CLN3 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000182372 ENSG00000182372 HGNC:2079 CLRN1 gene CLRN1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000163646 ENSG00000163646 HGNC:12605 CNGA1 gene CNGA1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 49, OMIM:613756 False 1 0;0;100 1.47 False ENSG00000198515 ENSG00000198515 HGNC:2148 CNGA3 gene CNGA3 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000144191 ENSG00000144191 HGNC:2150 CNGB1 gene CNGB1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000070729 ENSG00000070729 HGNC:2151 CNGB3 gene CNGB3 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000170289 ENSG00000170289 HGNC:2153 CNNM4 gene CNNM4 Emory Genetics Laboratory;Expert Review Amber;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;100;0 1.47 False ENSG00000158158 ENSG00000158158 HGNC:105 COL11A1 gene COL11A1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000204248 ENSG00000204248 HGNC:2187 COL2A1 gene COL2A1 Emory Genetics Laboratory;Expert Review Amber;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;100;0 1.47 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL4A1 gene COL4A1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL9A1 gene COL9A1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000049089 ENSG00000049089 HGNC:2218 CRB1 gene CRB1 Emory Genetics Laboratory;Expert Review Amber;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;100;0 1.47 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRX gene CRX Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000105392 ENSG00000105392 HGNC:2383 CTSD gene CTSD Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000117984 ENSG00000117984 HGNC:2529 CYP27A1 gene CYP27A1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP4V2 gene CYP4V2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000145476 ENSG00000145476 HGNC:23198 DHDDS gene DHDDS Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 59, OMIM:613861 False 1 0;0;100 1.47 False ENSG00000117682 ENSG00000117682 HGNC:20603 EFEMP1 gene EFEMP1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000115380 ENSG00000115380 HGNC:3218 ELOVL4 gene ELOVL4 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000118402 ENSG00000118402 HGNC:14415 EYS gene EYS Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000188107 ENSG00000188107 HGNC:21555 FAM161A gene FAM161A Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000170264 ENSG00000170264 HGNC:25808 FLVCR1 gene FLVCR1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000162769 ENSG00000162769 HGNC:24682 FOXD3 gene FOXD3 Expert Review Red;GDL Glaucoma panel;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment dysgenesis;Peters anomaly;aniridia 22815627 False 1 33;17;50 1.47 False ENSG00000187140 ENSG00000187140 HGNC:3804 FRAS1 gene FRAS1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000150893 ENSG00000150893 HGNC:25396 FSCN2 gene FSCN2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000186765 ENSG00000186765 HGNC:3960 FZD4 gene FZD4 Emory Genetics Laboratory;Expert Review Amber;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;100;0 1.47 False ENSG00000174804 ENSG00000174804 HGNC:4042 GNAT1 gene GNAT1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000114349 ENSG00000114349 HGNC:4393 GNAT2 gene GNAT2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000134183 ENSG00000134183 HGNC:4394 GPR143 gene GPR143 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000101850 ENSG00000101850 HGNC:20145 GPR179 gene GPR179 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000188888 ENSG00000277399 HGNC:31371 GRIP1 gene GRIP1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000155974 ENSG00000155974 HGNC:18708 GRM6 gene GRM6 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000113262 ENSG00000113262 HGNC:4598 GRN gene GRN Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000030582 ENSG00000030582 HGNC:4601 GUCA1A gene GUCA1A Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000048545 ENSG00000048545 HGNC:4678 GUCA1B gene GUCA1B Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000112599 ENSG00000112599 HGNC:4679 GUCY2D gene GUCY2D Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000132518 ENSG00000132518 HGNC:4689 HARS gene HARS Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000170445 ENSG00000170445 HGNC:4816 HCCS gene HCCS Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000004961 ENSG00000004961 HGNC:4837 IDH3B gene IDH3B Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000101365 ENSG00000101365 HGNC:5385 IMPDH1 gene IMPDH1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000106348 ENSG00000106348 HGNC:6052 IMPG2 gene IMPG2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000081148 ENSG00000081148 HGNC:18362 INVS gene INVS Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000173226 ENSG00000173226 HGNC:28949 KCNJ13 gene KCNJ13 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000115474 ENSG00000115474 HGNC:6259 KCNV2 gene KCNV2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000168263 ENSG00000168263 HGNC:19698 KCTD7 gene KCTD7 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000243335 ENSG00000243335 HGNC:21957 KIF7 gene KIF7 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000166813 ENSG00000166813 HGNC:30497 KLHL7 gene KLHL7 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000122550 ENSG00000122550 HGNC:15646 LCA5 gene LCA5 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000135338 ENSG00000135338 HGNC:31923 LRAT gene LRAT Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000121207 ENSG00000121207 HGNC:6685 LRIT3 gene LRIT3 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000183423 ENSG00000183423 HGNC:24783 LRMDA gene LRMDA Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000148655 ENSG00000148655 HGNC:23405 LRP5 gene LRP5 Emory Genetics Laboratory;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000162337 ENSG00000162337 HGNC:6697 LZTFL1 gene LZTFL1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000163818 ENSG00000163818 HGNC:6741 MAK gene MAK Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000111837 ENSG00000111837 HGNC:6816 MERTK gene MERTK Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000153208 ENSG00000153208 HGNC:7027 MFN2 gene MFN2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000116688 ENSG00000116688 HGNC:16877 MFRP gene MFRP Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000235718 ENSG00000235718 HGNC:18121 MFSD8 gene MFSD8 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000164073 ENSG00000164073 HGNC:28486 MKKS gene MKKS Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000011143 ENSG00000011143 HGNC:7121 MTTP gene MTTP Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000138823 ENSG00000138823 HGNC:7467 MYO7A gene MYO7A Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000137474 ENSG00000137474 HGNC:7606 NDP gene NDP Emory Genetics Laboratory;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000124479 ENSG00000124479 HGNC:7678 NPHP1 gene NPHP1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000131697 ENSG00000131697 HGNC:19104 NR2E3 gene NR2E3 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000031544 ENSG00000278570 HGNC:7974 NRL gene NRL Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000129535 ENSG00000129535 HGNC:8002 NTF4 gene NTF4 NHS GMS;Radboud University Medical Center, Nijmegen Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Glaucoma 1, open angle, 1O, 613100 False 1 0;0;100 1.47 False ENSG00000225950 ENSG00000225950 HGNC:8024 NYX gene NYX Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000188937 ENSG00000188937 HGNC:8082 OAT gene OAT Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000065154 ENSG00000065154 HGNC:8091 OCA2 gene OCA2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000104044 ENSG00000104044 HGNC:8101 OFD1 gene OFD1 Emory Genetics Laboratory;Expert Review Amber;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;100;0 1.47 False ENSG00000046651 ENSG00000046651 HGNC:2567 OPA1 gene OPA1 Emory Genetics Laboratory;Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders {Glaucoma, normal tension, susceptibility to}, OMIM:606657 False 1 0;33;67 1.47 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000125741 ENSG00000125741 HGNC:8142 OPTN gene OPTN Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glaucoma 1, open angle, E, OMIM:137760;{Glaucoma, normal tension, susceptibility to}, OMIM:606657;Adult-onset 11834836 False 1 0;33;67 1.47 False ENSG00000123240 ENSG00000123240 HGNC:17142 OTX2 gene OTX2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000165588 ENSG00000165588 HGNC:8522 PCDH15 gene PCDH15 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000150275 ENSG00000150275 HGNC:14674 PDE6A gene PDE6A Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000132915 ENSG00000132915 HGNC:8785 PDE6B gene PDE6B Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000133256 ENSG00000133256 HGNC:8786 PDE6C gene PDE6C Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000095464 ENSG00000095464 HGNC:8787 PDE6G gene PDE6G Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000185527 ENSG00000185527 HGNC:8789 PDE6H gene PDE6H Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000139053 ENSG00000139053 HGNC:8790 PDZD7 gene PDZD7 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000186862 ENSG00000186862 HGNC:26257 PEX7 gene PEX7 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000112357 ENSG00000112357 HGNC:8860 PHYH gene PHYH Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000107537 ENSG00000107537 HGNC:8940 PITPNM3 gene PITPNM3 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000091622 ENSG00000091622 HGNC:21043 PITX3 gene PITX3 Emory Genetics Laboratory;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000107859 ENSG00000107859 HGNC:9006 PLA2G5 gene PLA2G5 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000127472 ENSG00000127472 HGNC:9038 PPT1 gene PPT1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRCD gene PRCD Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000214140 ENSG00000214140 HGNC:32528 PROM1 gene PROM1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000007062 ENSG00000007062 HGNC:9454 PRPF3 gene PRPF3 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000117360 ENSG00000117360 HGNC:17348 PRPF31 gene PRPF31 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000105618 ENSG00000105618 HGNC:15446 PRPF6 gene PRPF6 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000101161 ENSG00000101161 HGNC:15860 PRPF8 gene PRPF8 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000174231 ENSG00000174231 HGNC:17340 PRPH2 gene PRPH2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000112619 ENSG00000112619 HGNC:9942 RAX2 gene RAX2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000173976 ENSG00000173976 HGNC:18286 RBP3 gene RBP3 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000107618 ENSG00000265203 HGNC:9921 RBP4 gene RBP4 Emory Genetics Laboratory;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000138207 ENSG00000138207 HGNC:9922 RD3 gene RD3 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000198570 ENSG00000198570 HGNC:19689 RDH12 gene RDH12 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000139988 ENSG00000139988 HGNC:19977 RDH5 gene RDH5 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000135437 ENSG00000135437 HGNC:9940 RGR gene RGR Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000148604 ENSG00000148604 HGNC:9990 RGS9 gene RGS9 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000108370 ENSG00000108370 HGNC:10004 RGS9BP gene RGS9BP Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000186326 ENSG00000186326 HGNC:30304 RHO gene RHO Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000163914 ENSG00000163914 HGNC:10012 RIMS1 gene RIMS1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000079841 ENSG00000079841 HGNC:17282 RLBP1 gene RLBP1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000140522 ENSG00000140522 HGNC:10024 ROM1 gene ROM1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000149489 ENSG00000149489 HGNC:10254 RP1 gene RP1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000104237 ENSG00000104237 HGNC:10263 RP2 gene RP2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000102218 ENSG00000102218 HGNC:10274 RP9 gene RP9 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000164610 ENSG00000164610 HGNC:10288 RPE65 gene RPE65 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPGR gene RPGR Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000092200 ENSG00000092200 HGNC:13436 RPGRIP1L gene RPGRIP1L Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000103494 ENSG00000103494 HGNC:29168 RS1 gene RS1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000102104 ENSG00000102104 HGNC:10457 SAG gene SAG Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000130561 ENSG00000130561 HGNC:10521 SDCCAG8 gene SDCCAG8 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000054282 ENSG00000054282 HGNC:10671 SEMA4A gene SEMA4A Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000196189 ENSG00000196189 HGNC:10729 SLC24A1 gene SLC24A1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000074621 ENSG00000074621 HGNC:10975 SLC24A5 gene SLC24A5 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000188467 ENSG00000188467 HGNC:20611 SLC45A2 gene SLC45A2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000164175 ENSG00000164175 HGNC:16472 SMOC1 gene SMOC1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000198732 ENSG00000198732 HGNC:20318 SNRNP200 gene SNRNP200 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000144028 ENSG00000144028 HGNC:30859 SOX2 gene SOX2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000181449 ENSG00000181449 HGNC:11195 SPATA13 gene SPATA13 Literature Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Primary Angle Closure Glaucoma 32339198 False 1 0;0;100 1.47 False ENSG00000182957 ENSG00000182957 HGNC:23222 SPATA7 gene SPATA7 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000042317 ENSG00000042317 HGNC:20423 STRA6 gene STRA6 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000137868 ENSG00000137868 HGNC:30650 TCTN1 gene TCTN1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000119977 ENSG00000119977 HGNC:24519 TIMM8A gene TIMM8A Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000126953 ENSG00000126953 HGNC:11817 TIMP3 gene TIMP3 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000100234 ENSG00000100234 HGNC:11822 TMEM126A gene TMEM126A Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000171202 ENSG00000171202 HGNC:25382 TMEM216 gene TMEM216 Emory Genetics Laboratory;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM237 gene TMEM237 Emory Genetics Laboratory;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Emory Genetics Laboratory;Expert Review Green;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000164953 ENSG00000164953 HGNC:28396 TOPORS gene TOPORS Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000197579 ENSG00000197579 HGNC:21653 TP53BP2 gene TP53BP2 Literature;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary Open Angle Glaucoma 28150229 False 1 0;0;100 1.47 False ENSG00000143514 ENSG00000143514 HGNC:12000 TPP1 gene TPP1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000166340 ENSG00000166340 HGNC:2073 TRIM32 gene TRIM32 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000119401 ENSG00000119401 HGNC:16380 TRPM1 gene TRPM1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000134160 ENSG00000134160 HGNC:7146 TSPAN12 gene TSPAN12 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000106025 ENSG00000106025 HGNC:21641 TTC21B gene TTC21B Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000165533 ENSG00000165533 HGNC:20087 TULP1 gene TULP1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000112041 ENSG00000112041 HGNC:12423 TYR gene TYR Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000077498 ENSG00000077498 HGNC:12442 TYRP1 gene TYRP1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000107165 ENSG00000107165 HGNC:12450 UNC119 gene UNC119 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000109103 ENSG00000109103 HGNC:12565 USH1C gene USH1C Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000042781 ENSG00000042781 HGNC:12601 VAX1 gene VAX1 Emory Genetics Laboratory;Expert Review Amber;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;100;0 1.47 False ENSG00000148704 ENSG00000148704 HGNC:12660 VCAN gene VCAN Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000038427 ENSG00000038427 HGNC:2464 VSX2 gene VSX2 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 100;0;0 1.47 False ENSG00000119614 ENSG00000119614 HGNC:1975 WDPCP gene WDPCP Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000143951 ENSG00000143951 HGNC:28027 WDR36 gene WDR36 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Glaucoma 1, open angle, G 609887" 15677485;17353431;18172102 False 1 0;0;100 1.47 False ENSG00000134987 ENSG00000134987 HGNC:30696 WFS1 gene WFS1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000109501 ENSG00000109501 HGNC:12762 WHRN gene WHRN Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000095397 ENSG00000095397 HGNC:16361 WT1 gene WT1 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000184937 ENSG00000184937 HGNC:12796 ZNF423 gene ZNF423 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF513 gene ZNF513 Emory Genetics Laboratory;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders Eye Disorders False 1 0;0;100 1.47 False ENSG00000163795 ENSG00000163795 HGNC:26498