{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["P58","P58IPK","HP58","ERdj6"],"biotype":"protein_coding","hgnc_id":"HGNC:9439","gene_name":"DnaJ heat shock protein family (Hsp40) member C3","omim_gene":["601184"],"alias_name":["interferon-induced, double-stranded RNA-activated protein kinase inhibitor","protein kinase inhibitor of 58 kDa","endoplasmic reticulum DNA J domain-containing protein 6"],"gene_symbol":"DNAJC3","hgnc_symbol":"DNAJC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:96329393-96447243","ensembl_id":"ENSG00000102580"}},"GRch38":{"90":{"location":"13:95677139-95794989","ensembl_id":"ENSG00000102580"}}},"hgnc_date_symbol_changed":"1995-09-20"},"entity_type":"gene","entity_name":"DNAJC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Expert Review Green","NHS GMS"],"phenotypes":["?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":152,"hash_id":"553f9745bb5a1616e5ed45e9","name":"Familial diabetes","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.38","version_created":"2019-06-20T15:15:02.453936Z","relevant_disorders":["Familial young-onset non-insulin-dependent diabetes"],"stats":{"number_of_genes":56,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["P58","P58IPK","HP58","ERdj6"],"biotype":"protein_coding","hgnc_id":"HGNC:9439","gene_name":"DnaJ heat shock protein family (Hsp40) member C3","omim_gene":["601184"],"alias_name":["interferon-induced, double-stranded RNA-activated protein kinase inhibitor","protein kinase inhibitor of 58 kDa","endoplasmic reticulum DNA J domain-containing protein 6"],"gene_symbol":"DNAJC3","hgnc_symbol":"DNAJC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:96329393-96447243","ensembl_id":"ENSG00000102580"}},"GRch38":{"90":{"location":"13:95677139-95794989","ensembl_id":"ENSG00000102580"}}},"hgnc_date_symbol_changed":"1995-09-20"},"entity_type":"gene","entity_name":"DNAJC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192","Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":472,"hash_id":null,"name":"Monogenic diabetes","disease_group":"","disease_sub_group":"","status":"public","version":"2.1","version_created":"2019-07-31T13:20:07.800002Z","relevant_disorders":["R141"],"stats":{"number_of_genes":77,"number_of_strs":0,"number_of_regions":1},"types":[{"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":["P58","P58IPK","HP58","ERdj6"],"biotype":"protein_coding","hgnc_id":"HGNC:9439","gene_name":"DnaJ heat shock protein family (Hsp40) member C3","omim_gene":["601184"],"alias_name":["interferon-induced, double-stranded RNA-activated protein kinase inhibitor","protein kinase inhibitor of 58 kDa","endoplasmic reticulum DNA J domain-containing protein 6"],"gene_symbol":"DNAJC3","hgnc_symbol":"DNAJC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:96329393-96447243","ensembl_id":"ENSG00000102580"}},"GRch38":{"90":{"location":"13:95677139-95794989","ensembl_id":"ENSG00000102580"}}},"hgnc_date_symbol_changed":"1995-09-20"},"entity_type":"gene","entity_name":"DNAJC3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25466870"],"evidence":["NHS GMS","London North GLH"],"phenotypes":["Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192","Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":85,"hash_id":"55ad205422c1fc7041340234","name":"Hereditary neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor and Sensory Disorders of the PNS","status":"public","version":"1.333","version_created":"2019-07-09T13:10:50.031506Z","relevant_disorders":["Charcot-Marie-Tooth disease"],"stats":{"number_of_genes":276,"number_of_strs":11,"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."}]}},{"gene_data":{"alias":["P58","P58IPK","HP58","ERdj6"],"biotype":"protein_coding","hgnc_id":"HGNC:9439","gene_name":"DnaJ heat shock protein family (Hsp40) member C3","omim_gene":["601184"],"alias_name":["interferon-induced, double-stranded RNA-activated protein kinase inhibitor","protein kinase inhibitor of 58 kDa","endoplasmic reticulum DNA J domain-containing protein 6"],"gene_symbol":"DNAJC3","hgnc_symbol":"DNAJC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:96329393-96447243","ensembl_id":"ENSG00000102580"}},"GRch38":{"90":{"location":"13:95677139-95794989","ensembl_id":"ENSG00000102580"}}},"hgnc_date_symbol_changed":"1995-09-20"},"entity_type":"gene","entity_name":"DNAJC3","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"}]}}]}
