{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA1616","LTRPC3","GON-2"],"biotype":"protein_coding","hgnc_id":"HGNC:17992","gene_name":"transient receptor potential cation channel subfamily M member 3","omim_gene":["608961"],"alias_name":["melastatin 2"],"gene_symbol":"TRPM3","hgnc_symbol":"TRPM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:73143979-74061820","ensembl_id":"ENSG00000083067"}},"GRch38":{"90":{"location":"9:70529063-71446904","ensembl_id":"ENSG00000083067"}}},"hgnc_date_symbol_changed":"2002-01-11"},"entity_type":"gene","entity_name":"TRPM3","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["31278393","29156220"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Amber","Literature"],"phenotypes":["Generalized hypotonia","Global developmental delay","Intellectual disability","Seizures","Autistic behavior"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["missense","watchlist"],"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":["KIAA1616","LTRPC3","GON-2"],"biotype":"protein_coding","hgnc_id":"HGNC:17992","gene_name":"transient receptor potential cation channel subfamily M member 3","omim_gene":["608961"],"alias_name":["melastatin 2"],"gene_symbol":"TRPM3","hgnc_symbol":"TRPM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:73143979-74061820","ensembl_id":"ENSG00000083067"}},"GRch38":{"90":{"location":"9:70529063-71446904","ensembl_id":"ENSG00000083067"}}},"hgnc_date_symbol_changed":"2002-01-11"},"entity_type":"gene","entity_name":"TRPM3","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["31278393"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Generalized hypotonia","Global developmental delay","Intellectual disability","Seizures","Autistic behavior"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["missense","watchlist"],"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"}]}}]}