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 KIF21A gene KIF21A Expert Review Green;Literature;Wessex and West Midlands GLH Congenital fibrosis of the extraocular muscles MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrosis of extraocular muscles, congenital, 1, OMIM:135700;Fibrosis of extraocular muscles, congenital, 3B, OMIM:135700 15621876;15621877;15223798;18332320 False 3 100;0;0 1.16 False ENSG00000139116 ENSG00000139116 HGNC:19349 PHOX2A gene PHOX2A Expert Review Green;Literature;Wessex and West Midlands GLH Congenital fibrosis of the extraocular muscles BIALLELIC, autosomal or pseudoautosomal Fibrosis of extraocular muscles, congenital, 2, OMIM:602078 11600883;14597037;22311481 False 3 50;50;0 1.16 False ENSG00000165462 ENSG00000165462 HGNC:691 TUBB3 gene TUBB3 Expert Review Green;Literature;Wessex and West Midlands GLH Congenital fibrosis of the extraocular muscles MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638 20074521;27428177 False 3 50;50;0 1.16 False ENSG00000258947 ENSG00000258947 HGNC:20772 COL25A1 gene COL25A1 Expert Review Amber;Literature;Wessex and West Midlands GLH Congenital fibrosis of the extraocular muscles BIALLELIC, autosomal or pseudoautosomal Fibrosis of extraocular muscles, congenital, 5, OMIM:616219 25500261;35077597 False 2 33;67;0 1.16 False ENSG00000188517 ENSG00000188517 HGNC:18603 MYF5 gene MYF5 Expert list;Expert Review Amber;Literature Congenital fibrosis of the extraocular muscles BIALLELIC, autosomal or pseudoautosomal Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155 29887215;35186005 False 2 25;50;25 1.16 False Other ENSG00000111049 ENSG00000111049 HGNC:7565 GRHL2 gene GRHL2 Expert Review Red;Wessex and West Midlands GLH Congenital fibrosis of the extraocular muscles Unknown congenital fibrosis of extraocular muscles, MONDO:0007614 29110737 False 1 0;0;100 1.16 False ENSG00000083307 ENSG00000083307 HGNC:2799 TUBB2B gene TUBB2B Expert Review Red;Literature;Wessex and West Midlands GLH Congenital fibrosis of the extraocular muscles MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital fibrosis of extraocular muscles, MONDO:0007614 23001566;11425694 False 1 0;50;50 1.16 False ENSG00000137285 ENSG00000137285 HGNC:30829