{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12299","gene_name":"thyrotropin releasing hormone receptor","omim_gene":["188545"],"alias_name":null,"gene_symbol":"TRHR","hgnc_symbol":"TRHR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:110098850-110131813","ensembl_id":"ENSG00000174417"}},"GRch38":{"90":{"location":"8:109086621-109119584","ensembl_id":"ENSG00000174417"}}},"hgnc_date_symbol_changed":"1993-11-08"},"entity_type":"gene","entity_name":"TRHR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"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"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12299","gene_name":"thyrotropin releasing hormone receptor","omim_gene":["188545"],"alias_name":null,"gene_symbol":"TRHR","hgnc_symbol":"TRHR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:110098850-110131813","ensembl_id":"ENSG00000174417"}},"GRch38":{"90":{"location":"8:109086621-109119584","ensembl_id":"ENSG00000174417"}}},"hgnc_date_symbol_changed":"1993-11-08"},"entity_type":"gene","entity_name":"TRHR","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 9141550","PMID: 19213692"],"evidence":["Expert Review Green","Literature"],"phenotypes":["mild-moderate isolated central hypothyroidism","absent TSH and prolactin response to TRH","Thyrotropin-releasing hormone resistance, generalized"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":31,"hash_id":"5763f2938f620350a1996046","name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","status":"public","version":"2.0","version_created":"2019-07-31T13:52:41.584963Z","relevant_disorders":["Congenital hypothyroidism or thyroid agenesis","R145"],"stats":{"number_of_genes":34,"number_of_strs":0,"number_of_regions":2},"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."}]}}]}
