{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["Math5","bHLHa13"],"biotype":"protein_coding","hgnc_id":"HGNC:13907","gene_name":"atonal bHLH transcription factor 7","omim_gene":["609875"],"alias_name":null,"gene_symbol":"ATOH7","hgnc_symbol":"ATOH7","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:69990386-69991871","ensembl_id":"ENSG00000179774"}},"GRch38":{"90":{"location":"10:68230624-68232103","ensembl_id":"ENSG00000179774"}}},"hgnc_date_symbol_changed":"2002-07-05"},"entity_type":"gene","entity_name":"ATOH7","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["1838","8779"],"evidence":["Expert Review Red","GDL Glaucoma panel"],"phenotypes":["AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":249,"hash_id":"55507b25bb5a161bf644a3b2","name":"Glaucoma (developmental)","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.5","version_created":"2019-06-20T15:15:07.662717Z","relevant_disorders":[],"stats":{"number_of_genes":224,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["Math5","bHLHa13"],"biotype":"protein_coding","hgnc_id":"HGNC:13907","gene_name":"atonal bHLH transcription factor 7","omim_gene":["609875"],"alias_name":null,"gene_symbol":"ATOH7","hgnc_symbol":"ATOH7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:69990386-69991871","ensembl_id":"ENSG00000179774"}},"GRch38":{"90":{"location":"10:68230624-68232103","ensembl_id":"ENSG00000179774"}}},"hgnc_date_symbol_changed":"2002-07-05"},"entity_type":"gene","entity_name":"ATOH7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC 221900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["Math5","bHLHa13"],"biotype":"protein_coding","hgnc_id":"HGNC:13907","gene_name":"atonal bHLH transcription factor 7","omim_gene":["609875"],"alias_name":null,"gene_symbol":"ATOH7","hgnc_symbol":"ATOH7","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:69990386-69991871","ensembl_id":"ENSG00000179774"}},"GRch38":{"90":{"location":"10:68230624-68232103","ensembl_id":"ENSG00000179774"}}},"hgnc_date_symbol_changed":"2002-07-05"},"entity_type":"gene","entity_name":"ATOH7","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 22068589","PMID: 22068589","PMID: 26933893","PMID: 24689660","PMID: 24457358","PMID: 23802135 - not associated with optic nerve hypoplasia","PMID: 22645276 - report that variants in this gene cause autosomal recessive persistent hyperplasia of the primary vitreous \"Our results strongly suggest that autosomal recessive persistent hyperplastic primary vitreous is caused by N46H and is etiologically related to nonsyndromic congenital retinal nonattachment. The R65G allele, however, cannot explain the ONA phenotype. Our study firmly establishes ATOH7 as a retinal disease gene and provides a functional basis to analyze new coding variants\"","PMID: 22584021","PMID: 21441919","PMID: 21398277","PMID: 21427129","PMID: 21307088","PMID: 20395239","PMID: 11889557"],"evidence":["NHS GMS","Expert Review Green","Expert list"],"phenotypes":["Persistent hyperplastic primary vitreous, autosomal recessive","multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":307,"hash_id":"56e0238b22c1fc09c97a6e46","name":"Retinal disorders","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"1.199","version_created":"2019-10-08T09:22:18.436205Z","relevant_disorders":["Posterior segment abnormalities","Cone Dysfunction Syndrome","Developmental macular and foveal dystrophy","Inherited macular dystrophy","Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy","Rod Dysfunction Syndrome","Rod-cone dystrophy","Familial exudative vitreoretinopathy","Familial exudative retinopathy","R32","R33","R34","R35"],"stats":{"number_of_genes":320,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}},{"gene_data":{"alias":["Math5","bHLHa13"],"biotype":"protein_coding","hgnc_id":"HGNC:13907","gene_name":"atonal bHLH transcription factor 7","omim_gene":["609875"],"alias_name":null,"gene_symbol":"ATOH7","hgnc_symbol":"ATOH7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:69990386-69991871","ensembl_id":"ENSG00000179774"}},"GRch38":{"90":{"location":"10:68230624-68232103","ensembl_id":"ENSG00000179774"}}},"hgnc_date_symbol_changed":"2002-07-05"},"entity_type":"gene","entity_name":"ATOH7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11493566","22068589","1838","8779"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment","Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":509,"hash_id":null,"name":"Structural eye disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.93","version_created":"2019-10-09T13:18:12.923145Z","relevant_disorders":["R36"],"stats":{"number_of_genes":456,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"}]}}]}