{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:21645","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 2","omim_gene":["616244"],"alias_name":null,"gene_symbol":"CHCHD2","hgnc_symbol":"CHCHD2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:56169262-56174269","ensembl_id":"ENSG00000106153"}},"GRch38":{"90":{"location":"7:56101569-56106576","ensembl_id":"ENSG00000106153"}}},"hgnc_date_symbol_changed":"2004-01-21"},"entity_type":"gene","entity_name":"CHCHD2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015","26067114","25662902","26067110"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Parkinson disease 22, autosomal dominant","616710"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":39,"hash_id":"58078e6e8f62030e233a8157","name":"Parkinson Disease and Complex Parkinsonism","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodegenerative disorders","status":"public","version":"1.66","version_created":"2019-06-20T15:15:15.111993Z","relevant_disorders":["Complex Parkinsonism (includes pallido-pyramidal syndromes)","Early onset and familial Parkinson's Disease"],"stats":{"number_of_genes":57,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:21645","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 2","omim_gene":["616244"],"alias_name":null,"gene_symbol":"CHCHD2","hgnc_symbol":"CHCHD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:56169262-56174269","ensembl_id":"ENSG00000106153"}},"GRch38":{"90":{"location":"7:56101569-56106576","ensembl_id":"ENSG00000106153"}}},"hgnc_date_symbol_changed":"2004-01-21"},"entity_type":"gene","entity_name":"CHCHD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015","25662902","26067114","26705026","26067110"],"evidence":["Expert Review Green","Wessex and West Midlands GLH","Yorkshire and North East GLH","London North GLH","NHS GMS","South West GLH"],"phenotypes":["Parkinson disease 22, autosomal dominant","616710"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":474,"hash_id":null,"name":"Neurodegenerative disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.106","version_created":"2019-09-20T16:19:10.101841Z","relevant_disorders":["R58"],"stats":{"number_of_genes":395,"number_of_strs":18,"number_of_regions":4},"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."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:21645","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 2","omim_gene":["616244"],"alias_name":null,"gene_symbol":"CHCHD2","hgnc_symbol":"CHCHD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:56169262-56174269","ensembl_id":"ENSG00000106153"}},"GRch38":{"90":{"location":"7:56101569-56106576","ensembl_id":"ENSG00000106153"}}},"hgnc_date_symbol_changed":"2004-01-21"},"entity_type":"gene","entity_name":"CHCHD2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015","26067110","26067114","25662902"],"evidence":["London North GLH","NHS GMS","South West GLH","Expert Review Amber"],"phenotypes":["616710","Parkinson disease 22, autosomal dominant"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":540,"hash_id":null,"name":"Adult onset movement disorder","disease_group":"","disease_sub_group":"","status":"public","version":"0.125","version_created":"2019-09-29T14:25:05.513850Z","relevant_disorders":["R56"],"stats":{"number_of_genes":202,"number_of_strs":11,"number_of_regions":1},"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)"}]}}]}
