{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["HG20","GABABR2","GPRC3B"],"biotype":"protein_coding","hgnc_id":"HGNC:4507","gene_name":"gamma-aminobutyric acid type B receptor subunit 2","omim_gene":["607340"],"alias_name":null,"gene_symbol":"GABBR2","hgnc_symbol":"GABBR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:101050391-101471479","ensembl_id":"ENSG00000136928"}},"GRch38":{"90":{"location":"9:98288082-98709197","ensembl_id":"ENSG00000136928"}}},"hgnc_date_symbol_changed":"2006-02-16"},"entity_type":"gene","entity_name":"GABBR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","SFARI"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":657,"hash_id":null,"name":"Autism","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-06-20T15:10:14.437740Z","relevant_disorders":[],"stats":{"number_of_genes":733,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Research","slug":"research","description":"This is a gene panel used for research."}]}},{"gene_data":{"alias":["HG20","GABABR2","GPRC3B"],"biotype":"protein_coding","hgnc_id":"HGNC:4507","gene_name":"gamma-aminobutyric acid type B receptor subunit 2","omim_gene":["607340"],"alias_name":null,"gene_symbol":"GABBR2","hgnc_symbol":"GABBR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:101050391-101471479","ensembl_id":"ENSG00000136928"}},"GRch38":{"90":{"location":"9:98288082-98709197","ensembl_id":"ENSG00000136928"}}},"hgnc_date_symbol_changed":"2006-02-16"},"entity_type":"gene","entity_name":"GABBR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["25262651"],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["EPILEPTIC ENCEPHALOPATHY"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["HG20","GABABR2","GPRC3B"],"biotype":"protein_coding","hgnc_id":"HGNC:4507","gene_name":"gamma-aminobutyric acid type B receptor subunit 2","omim_gene":["607340"],"alias_name":null,"gene_symbol":"GABBR2","hgnc_symbol":"GABBR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:101050391-101471479","ensembl_id":"ENSG00000136928"}},"GRch38":{"90":{"location":"9:98288082-98709197","ensembl_id":"ENSG00000136928"}}},"hgnc_date_symbol_changed":"2006-02-16"},"entity_type":"gene","entity_name":"GABBR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11","29100083","28061363","28135719","28856709"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Green","Expert Review","Expert Review Green"],"phenotypes":["EPILEPTIC ENCEPHALOPATHY","Rett syndrome","Epileptic encephalopathy, early infantile, 59, 617904"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":402,"hash_id":null,"name":"Genetic epilepsy syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Inherited Epilepsy Syndromes","status":"public","version":"1.363","version_created":"2019-10-08T10:06:11.607307Z","relevant_disorders":["Epilepsy Plus","Epilepsy plus other features","Genetic Epilepsy Syndromes","Epileptic encephalopathy","Familial Focal Epilepsies","Familial Genetic Generalised Epilepsies","Genetic Epilepsies with Febrile Seizures Plus (GEFS+)","Genetic Epilepsies with Febrile Seizures Plus"],"stats":{"number_of_genes":614,"number_of_strs":2,"number_of_regions":13},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"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":["HG20","GABABR2","GPRC3B"],"biotype":"protein_coding","hgnc_id":"HGNC:4507","gene_name":"gamma-aminobutyric acid type B receptor subunit 2","omim_gene":["607340"],"alias_name":null,"gene_symbol":"GABBR2","hgnc_symbol":"GABBR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:101050391-101471479","ensembl_id":"ENSG00000136928"}},"GRch38":{"90":{"location":"9:98288082-98709197","ensembl_id":"ENSG00000136928"}}},"hgnc_date_symbol_changed":"2006-02-16"},"entity_type":"gene","entity_name":"GABBR2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["29100083","28061363","28135719","28856709","29369404","29377213"],"evidence":["Expert Review Green"],"phenotypes":["EPILEPTIC ENCEPHALOPATHY","Rett syndrome","Neurodevelopmental disorder with poor language and loss of hand skills, 617903"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["missense"],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}
