{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["dJ553F4.4","Shax1","SNF7-2","VPS32B"],"biotype":"protein_coding","hgnc_id":"HGNC:16171","gene_name":"charged multivesicular body protein 4B","omim_gene":["610897"],"alias_name":null,"gene_symbol":"CHMP4B","hgnc_symbol":"CHMP4B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"20:32399110-32442172","ensembl_id":"ENSG00000101421"}},"GRch38":{"90":{"location":"20:33811304-33854366","ensembl_id":"ENSG00000101421"}}},"hgnc_date_symbol_changed":"2005-04-04"},"entity_type":"gene","entity_name":"CHMP4B","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Cataract 31, multiple types, 605387"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":230,"hash_id":"553f979fbb5a1616e5ed45f8","name":"Cataracts","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"2.0","version_created":"2019-10-02T14:52:22.701027Z","relevant_disorders":["R31"],"stats":{"number_of_genes":172,"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."}]}},{"gene_data":{"alias":["dJ553F4.4","Shax1","SNF7-2","VPS32B"],"biotype":"protein_coding","hgnc_id":"HGNC:16171","gene_name":"charged multivesicular body protein 4B","omim_gene":["610897"],"alias_name":null,"gene_symbol":"CHMP4B","hgnc_symbol":"CHMP4B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:32399110-32442172","ensembl_id":"ENSG00000101421"}},"GRch38":{"90":{"location":"20:33811304-33854366","ensembl_id":"ENSG00000101421"}}},"hgnc_date_symbol_changed":"2005-04-04"},"entity_type":"gene","entity_name":"CHMP4B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17701905"],"evidence":["NHS GMS"],"phenotypes":["Cataract 31, multiple types, 605387"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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)"}]}}]}