{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["DFNX4"],"biotype":"protein_coding","hgnc_id":"HGNC:11122","gene_name":"small muscle protein, X-linked","omim_gene":["300226"],"alias_name":null,"gene_symbol":"SMPX","hgnc_symbol":"SMPX","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:21724090-21776281","ensembl_id":"ENSG00000091482"}},"GRch38":{"90":{"location":"X:21705972-21758163","ensembl_id":"ENSG00000091482"}}},"hgnc_date_symbol_changed":"1999-03-18"},"entity_type":"gene","entity_name":"SMPX","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 10598820","11381084","11401441","21549336","21549342","22911656","7581376","8872482"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Nonsyndromic Hearing Loss, X-Linked","Deafness, X-linked 4, 300066","hearing loss"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","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)"}]}}]}
