{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["rd5"],"biotype":"protein_coding","hgnc_id":"HGNC:12406","gene_name":"tubby bipartite transcription factor","omim_gene":["601197"],"alias_name":null,"gene_symbol":"TUB","hgnc_symbol":"TUB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:8040791-8127659","ensembl_id":"ENSG00000166402"}},"GRch38":{"90":{"location":"11:8019244-8106112","ensembl_id":"ENSG00000166402"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"TUB","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24375934","22618246","22492381","19885003","18619628","18183286","17955208 (candidate for late-onset obesity)","16643894","16443771","12076089","10629044","10196693","8612280"],"evidence":["Expert Review Amber","Expert list","Radboud University Medical Center, Nijmegen"],"phenotypes":["?Retinal dystrophy and obesity, 616188"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":"55d2fc2d22c1fc2cc6635960","name":"Severe early-onset obesity","disease_group":"Endocrine disorders","disease_sub_group":"Obesity syndromes","status":"public","version":"2.0","version_created":"2019-09-23T12:02:23.516332Z","relevant_disorders":["Significant early-onset obesity with or without other endocrine features and short stature","Significant early-onset obesity +/- other endocrine features and short stature","R149"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":3},"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."},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."},{"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)"}]}},{"gene_data":{"alias":["rd5"],"biotype":"protein_coding","hgnc_id":"HGNC:12406","gene_name":"tubby bipartite transcription factor","omim_gene":["601197"],"alias_name":null,"gene_symbol":"TUB","hgnc_symbol":"TUB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:8040791-8127659","ensembl_id":"ENSG00000166402"}},"GRch38":{"90":{"location":"11:8019244-8106112","ensembl_id":"ENSG00000166402"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"TUB","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":126,"hash_id":"558ac48fbb5a16630dcfeaad","name":"Hearing loss","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"2.2","version_created":"2019-09-03T14:01:56.987667Z","relevant_disorders":["Congenital hearing impairment","Autosomal dominant deafness","Congenital hearing impairment (profound/severe)","R67"],"stats":{"number_of_genes":358,"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."},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."},{"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)"}]}},{"gene_data":{"alias":["rd5"],"biotype":"protein_coding","hgnc_id":"HGNC:12406","gene_name":"tubby bipartite transcription factor","omim_gene":["601197"],"alias_name":null,"gene_symbol":"TUB","hgnc_symbol":"TUB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:8040791-8127659","ensembl_id":"ENSG00000166402"}},"GRch38":{"90":{"location":"11:8019244-8106112","ensembl_id":"ENSG00000166402"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"TUB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16643894","24375934","12076089","10629044"],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Genetic Retinal Degeneration Conditions"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["watchlist"],"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."}]}}]}
