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 BRPF1 gene BRPF1 Expert Review;Expert Review Green Blepharophimosis Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333;MONDO:0015022" Blepharophimosis;HP:0000581 27939640;27939639 False 3 100;0;0 1.1 True ENSG00000156983 ENSG00000156983 HGNC:14255 COLEC10 gene COLEC10 Expert Review;Expert Review Green Blepharophimosis Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "3MC syndrome 3, MIM# 248340" Blepharophimosis;HP:0000581 False 3 100;0;0 1.1 True ENSG00000184374 ENSG00000184374 HGNC:2220 COLEC11 gene COLEC11 Expert Review;Expert Review Green Blepharophimosis Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "3MC syndrome 2, MIM# 265050" Blepharophimosis;HP:0000581 False 3 100;0;0 1.1 True ENSG00000118004 ENSG00000118004 HGNC:17213 ERCC1 gene ERCC1 Expert Review;Expert Review Green Blepharophimosis Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Cerebrooculofacioskeletal syndrome 4, MIM# 610758" Blepharophimosis;HP:0000581 False 3 100;0;0 1.1 True ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC5 gene ERCC5 Expert Review;Expert Review Green Blepharophimosis Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Cerebrooculofacioskeletal syndrome 3,MIM# 616570" Blepharophimosis;HP:0000581 False 3 100;0;0 1.1 True ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert Review;Expert Review Green Blepharophimosis Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Cerebrooculofacioskeletal syndrome 1, MIM# 214150" Blepharophimosis;HP:0000581 False 3 100;0;0 1.1 True ENSG00000225830 ENSG00000225830 HGNC:3438 FOXL2 gene FOXL2 Expert Review Green;Victorian Clinical Genetics Services Blepharophimosis Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100) Blepharophimosis;HP:0000581 31077882;18642388;17089161 False 3 100;0;0 1.1 True ENSG00000183770 ENSG00000183770 HGNC:1092 HSPG2 gene HSPG2 Expert Review Green;Victorian Clinical Genetics Services Blepharophimosis Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Schwartz-Jampel syndrome, type 1, MIM# 255800;MONDO:0009717 Blepharophimosis;HP:0000581 11101850;16927315 False 3 100;0;0 1.1 True ENSG00000142798 ENSG00000142798 HGNC:5273 HUWE1 gene HUWE1 Expert Review Green;Victorian Clinical Genetics Services Blepharophimosis Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked syndromic, Turner type, MIM# 309590;MONDO:0010407 Blepharophimosis;HP:0000581 18252223;29180823 False 3 100;0;0 1.1 True ENSG00000086758 ENSG00000086758 HGNC:30892 KANSL1 gene KANSL1 Expert Review Green;Victorian Clinical Genetics Services Blepharophimosis Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Koolen-De Vries syndrome, MIM# 610443;MONDO:0012496 Blepharophimosis;HP:0000581 19447831;22544367;22544363 False 3 100;0;0 1.1 True ENSG00000120071 ENSG00000120071 HGNC:24565 KAT6B gene KAT6B Expert Review Green;Victorian Clinical Genetics Services Blepharophimosis Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SBBYSS syndrome, MIM# 603736;MONDO:0011365 Blepharophimosis;HP:0000581 32424177 False 3 100;0;0 1.1 True ENSG00000156650 ENSG00000156650 HGNC:17582 MASP1 gene MASP1 Expert Review Green;Victorian Clinical Genetics Services Blepharophimosis Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 1, MIM# 257920;MONDO:0009770 Blepharophimosis;HP:0000581 26789649;21258343;21035106 False 3 100;0;0 1.1 True ENSG00000127241 ENSG00000127241 HGNC:6901 MED12 gene MED12 Expert Review Green;Victorian Clinical Genetics Services Blepharophimosis Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ohdo syndrome, X-linked, MIM# 300895 Blepharophimosis;HP:0000581 False 3 100;0;0 1.1 True ENSG00000184634 ENSG00000184634 HGNC:11957 MYH3 gene MYH3 Expert Review Green;Victorian Clinical Genetics Services Blepharophimosis Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis, distal, type 2A (Freeman-Sheldon), MIM# 193700 Blepharophimosis;HP:0000581 False 3 100;0;0 1.1 True ENSG00000109063 ENSG00000109063 HGNC:7573 PIEZO2 gene PIEZO2 Expert Review Green;Victorian Clinical Genetics Services Blepharophimosis Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marden-Walker syndrome, MIM# 248700;Arthrogryposis, distal, type 5, MIM# 108145 Blepharophimosis;HP:0000581 False 3 100;0;0 1.1 True ENSG00000154864 ENSG00000154864 HGNC:26270 RERE gene RERE Expert Review Green;Victorian Clinical Genetics Services Blepharophimosis Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 Blepharophimosis;HP:0000581 27087320;23451234;30896913;30061196 False 3 100;0;0 1.1 True ENSG00000142599 ENSG00000142599 HGNC:9965 SCARF2 gene SCARF2 Expert Review Green;Victorian Clinical Genetics Services Blepharophimosis Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Van den Ende-Gupta syndrome, MIM# 600920 Blepharophimosis;HP:0000581 20887961;23808541;24478002;27375131;24478002 False 3 100;0;0 1.1 True ENSG00000244486 ENSG00000244486 HGNC:19869 SMARCA2 gene SMARCA2 Expert Review Green;Literature Blepharophimosis Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blepharophimosis-intellectual disability syndrome (BIS), MIM#619293 Blepharophimosis;HP:0000581 32694869 False 3 100;0;0 1.1 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000080503 ENSG00000080503 HGNC:11098 TLK2 gene TLK2 Expert Review Green;Victorian Clinical Genetics Services Blepharophimosis Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 57, MIM# 618050 Blepharophimosis;HP:0000581 29861108 False 3 100;0;0 1.1 True ENSG00000146872 ENSG00000146872 HGNC:11842 TRAF7 gene TRAF7 Expert Review Green;Victorian Clinical Genetics Services Blepharophimosis Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164 Blepharophimosis;HP:0000581 32376980 False 3 100;0;0 1.1 True ENSG00000131653 ENSG00000131653 HGNC:20456 UBE3B gene UBE3B Expert Review Green;Victorian Clinical Genetics Services Blepharophimosis Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Kaufman oculocerebrofacial syndrome, MIM# 244450;MONDO:0009485 Blepharophimosis;HP:0000581 23200864;23200864;34012380;32949109 False 3 100;0;0 1.1 True ENSG00000151148 ENSG00000151148 HGNC:13478 POGZ gene POGZ Expert Review Amber;Victorian Clinical Genetics Services Blepharophimosis Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted White-Sutton syndrome, MIM# 616364;MONDO:0014606 Blepharophimosis;HP:0000581 33098347;31782611;26942287 False 2 0;100;0 1.1 True ENSG00000143442 ENSG00000143442 HGNC:18801 ERCC2 gene ERCC2 Expert list;Expert Review Red Blepharophimosis Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Cerebrooculofacioskeletal syndrome 2, MIM# 610756" Blepharophimosis;HP:0000581 11443545 False 1 0;0;100 1.1 True ENSG00000104884 ENSG00000104884 HGNC:3434