{"count":12,"next":null,"previous":null,"results":[{"gene_data":{"alias":["N27C7-4"],"biotype":"protein_coding","hgnc_id":"HGNC:15559","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 10","omim_gene":["615903"],"alias_name":null,"gene_symbol":"CHCHD10","hgnc_symbol":"CHCHD10","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:24108021-24110630","ensembl_id":"ENSG00000250479"}},"GRch38":{"90":{"location":"22:23765834-23768443","ensembl_id":"ENSG00000250479"}}},"hgnc_date_symbol_changed":"2008-06-13"},"entity_type":"gene","entity_name":"CHCHD10","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["?Myopathy, isolated mitochondrial, autosomal dominant, 616209"],"mode_of_inheritance":"","tags":[],"panel":{"id":265,"hash_id":"55b6173522c1fc05fc7a1855","name":"Early onset dementia (encompassing fronto-temporal dementia and prion disease)","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodegenerative disorders","status":"public","version":"1.48","version_created":"2019-06-20T15:15:01.659131Z","relevant_disorders":[],"stats":{"number_of_genes":31,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["N27C7-4"],"biotype":"protein_coding","hgnc_id":"HGNC:15559","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 10","omim_gene":["615903"],"alias_name":null,"gene_symbol":"CHCHD10","hgnc_symbol":"CHCHD10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:24108021-24110630","ensembl_id":"ENSG00000250479"}},"GRch38":{"90":{"location":"22:23765834-23768443","ensembl_id":"ENSG00000250479"}}},"hgnc_date_symbol_changed":"2008-06-13"},"entity_type":"gene","entity_name":"CHCHD10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25428574","25193783"],"evidence":["Expert Review Green"],"phenotypes":["Spinal muscular atrophy, Jokela type 615048","?Myopathy, isolated mitochondrial, autosomal dominant 616209","Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":465,"hash_id":null,"name":"Neuromuscular disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.11","version_created":"2019-10-09T12:42:27.875560Z","relevant_disorders":["Other rare neuromuscular disorders; R381"],"stats":{"number_of_genes":245,"number_of_strs":2,"number_of_regions":5},"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["N27C7-4"],"biotype":"protein_coding","hgnc_id":"HGNC:15559","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 10","omim_gene":["615903"],"alias_name":null,"gene_symbol":"CHCHD10","hgnc_symbol":"CHCHD10","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:24108021-24110630","ensembl_id":"ENSG00000250479"}},"GRch38":{"90":{"location":"22:23765834-23768443","ensembl_id":"ENSG00000250479"}}},"hgnc_date_symbol_changed":"2008-06-13"},"entity_type":"gene","entity_name":"CHCHD10","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["?Myopathy, isolated mitochondrial, autosomal dominant, 616209"],"mode_of_inheritance":"","tags":[],"panel":{"id":258,"hash_id":"55b75d5b22c1fc05fd2345c9","name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"2.45","version_created":"2019-10-07T10:19:07.721001Z","relevant_disorders":["Arthrogrythsis"],"stats":{"number_of_genes":246,"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","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)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["N27C7-4"],"biotype":"protein_coding","hgnc_id":"HGNC:15559","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 10","omim_gene":["615903"],"alias_name":null,"gene_symbol":"CHCHD10","hgnc_symbol":"CHCHD10","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:24108021-24110630","ensembl_id":"ENSG00000250479"}},"GRch38":{"90":{"location":"22:23765834-23768443","ensembl_id":"ENSG00000250479"}}},"hgnc_date_symbol_changed":"2008-06-13"},"entity_type":"gene","entity_name":"CHCHD10","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25193783"],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["?Myopathy, isolated mitochondrial, autosomal dominant 616209","Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911","Spinal muscular atrophy, Jokela type 615048"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["adult-onset"],"panel":{"id":225,"hash_id":"553f94b6bb5a1616e5ed459a","name":"Congenital myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.166","version_created":"2019-10-09T12:41:32.789611Z","relevant_disorders":["R81"],"stats":{"number_of_genes":100,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"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)"}]}},{"gene_data":{"alias":["N27C7-4"],"biotype":"protein_coding","hgnc_id":"HGNC:15559","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 10","omim_gene":["615903"],"alias_name":null,"gene_symbol":"CHCHD10","hgnc_symbol":"CHCHD10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:24108021-24110630","ensembl_id":"ENSG00000250479"}},"GRch38":{"90":{"location":"22:23765834-23768443","ensembl_id":"ENSG00000250479"}}},"hgnc_date_symbol_changed":"2008-06-13"},"entity_type":"gene","entity_name":"CHCHD10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25113787","30014597","27810918","25576308","24934289"],"evidence":["Yorkshire and North East GLH","Expert Review Green","London North GLH","NHS GMS","South West GLH"],"phenotypes":["?Myopathy, isolated mitochondrial, autosomal dominant, 616209"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["N27C7-4"],"biotype":"protein_coding","hgnc_id":"HGNC:15559","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 10","omim_gene":["615903"],"alias_name":null,"gene_symbol":"CHCHD10","hgnc_symbol":"CHCHD10","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:24108021-24110630","ensembl_id":"ENSG00000250479"}},"GRch38":{"90":{"location":"22:23765834-23768443","ensembl_id":"ENSG00000250479"}}},"hgnc_date_symbol_changed":"2008-06-13"},"entity_type":"gene","entity_name":"CHCHD10","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["?Myopathy, isolated mitochondrial, autosomal dominant, 616209","Frontotemporal dementia and/or amyotrophic lateral sclerosis 2","Spinal muscular atrophy, Jokela type"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":302,"hash_id":"5763f1518f620350a22bccdb","name":"Undiagnosed metabolic disorders","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.373","version_created":"2019-10-08T14:47:17.153678Z","relevant_disorders":["Undiagnosed Metabolic Panel"],"stats":{"number_of_genes":744,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["N27C7-4"],"biotype":"protein_coding","hgnc_id":"HGNC:15559","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 10","omim_gene":["615903"],"alias_name":null,"gene_symbol":"CHCHD10","hgnc_symbol":"CHCHD10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:24108021-24110630","ensembl_id":"ENSG00000250479"}},"GRch38":{"90":{"location":"22:23765834-23768443","ensembl_id":"ENSG00000250479"}}},"hgnc_date_symbol_changed":"2008-06-13"},"entity_type":"gene","entity_name":"CHCHD10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Frontotemporal dementia and/or amyotrophic lateral sclerosis 2","?Myopathy, isolated mitochondrial, autosomal dominant, 616209","Spinal muscular atrophy, Jokela type"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":467,"hash_id":null,"name":"Inborn errors of metabolism","disease_group":"","disease_sub_group":"","status":"public","version":"1.348","version_created":"2019-10-09T08:19:52.386941Z","relevant_disorders":["Likely inborn error of metabolism - targeted testing not possible"],"stats":{"number_of_genes":877,"number_of_strs":2,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["N27C7-4"],"biotype":"protein_coding","hgnc_id":"HGNC:15559","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 10","omim_gene":["615903"],"alias_name":null,"gene_symbol":"CHCHD10","hgnc_symbol":"CHCHD10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:24108021-24110630","ensembl_id":"ENSG00000250479"}},"GRch38":{"90":{"location":"22:23765834-23768443","ensembl_id":"ENSG00000250479"}}},"hgnc_date_symbol_changed":"2008-06-13"},"entity_type":"gene","entity_name":"CHCHD10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Spinal muscular atrophy, Jokela type 615048","Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911","?Myopathy, isolated mitochondrial, autosomal dominant, 616209"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":539,"hash_id":null,"name":"Possible mitochondrial disorder - nuclear genes","disease_group":"","disease_sub_group":"","status":"public","version":"1.12","version_created":"2019-09-16T14:57:01.996850Z","relevant_disorders":["R63"],"stats":{"number_of_genes":374,"number_of_strs":0,"number_of_regions":0},"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)"},{"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":["N27C7-4"],"biotype":"protein_coding","hgnc_id":"HGNC:15559","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 10","omim_gene":["615903"],"alias_name":null,"gene_symbol":"CHCHD10","hgnc_symbol":"CHCHD10","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:24108021-24110630","ensembl_id":"ENSG00000250479"}},"GRch38":{"90":{"location":"22:23765834-23768443","ensembl_id":"ENSG00000250479"}}},"hgnc_date_symbol_changed":"2008-06-13"},"entity_type":"gene","entity_name":"CHCHD10","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["?Myopathy, isolated mitochondrial, autosomal dominant, 616209"],"mode_of_inheritance":"","tags":[],"panel":{"id":263,"hash_id":"55d30b0322c1fc2ff2a5bf7b","name":"Amyotrophic lateral sclerosis/motor neuron disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodegenerative disorders","status":"public","version":"1.29","version_created":"2019-06-20T15:14:55.521778Z","relevant_disorders":["Amyotrophic lateral sclerosis or motor neuron disease"],"stats":{"number_of_genes":30,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["N27C7-4"],"biotype":"protein_coding","hgnc_id":"HGNC:15559","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 10","omim_gene":["615903"],"alias_name":null,"gene_symbol":"CHCHD10","hgnc_symbol":"CHCHD10","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:24108021-24110630","ensembl_id":"ENSG00000250479"}},"GRch38":{"90":{"location":"22:23765834-23768443","ensembl_id":"ENSG00000250479"}}},"hgnc_date_symbol_changed":"2008-06-13"},"entity_type":"gene","entity_name":"CHCHD10","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25428574"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Spinal muscular atrophy, Jokela type   615048"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":79,"hash_id":"5541ef3dbb5a160c33b964e0","name":"Paediatric motor neuronopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor and Sensory Disorders of the PNS","status":"public","version":"1.23","version_created":"2019-06-20T15:15:14.703422Z","relevant_disorders":[],"stats":{"number_of_genes":39,"number_of_strs":1,"number_of_regions":5},"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":["N27C7-4"],"biotype":"protein_coding","hgnc_id":"HGNC:15559","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 10","omim_gene":["615903"],"alias_name":null,"gene_symbol":"CHCHD10","hgnc_symbol":"CHCHD10","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:24108021-24110630","ensembl_id":"ENSG00000250479"}},"GRch38":{"90":{"location":"22:23765834-23768443","ensembl_id":"ENSG00000250479"}}},"hgnc_date_symbol_changed":"2008-06-13"},"entity_type":"gene","entity_name":"CHCHD10","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25428574"],"evidence":["South West GLH","NHS GMS","London North GLH","Expert Review Green","Expert Review"],"phenotypes":["Spinal muscular atrophy, Jokela type: 615048"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["N27C7-4"],"biotype":"protein_coding","hgnc_id":"HGNC:15559","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 10","omim_gene":["615903"],"alias_name":null,"gene_symbol":"CHCHD10","hgnc_symbol":"CHCHD10","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:24108021-24110630","ensembl_id":"ENSG00000250479"}},"GRch38":{"90":{"location":"22:23765834-23768443","ensembl_id":"ENSG00000250479"}}},"hgnc_date_symbol_changed":"2008-06-13"},"entity_type":"gene","entity_name":"CHCHD10","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["?Myopathy, isolated mitochondrial, autosomal dominant, 616209","Frontotemporal dementia and/or amyotrophic lateral sclerosis 2","Spinal muscular atrophy, Jokela type"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":112,"hash_id":"55928cf522c1fc4f7d26e960","name":"Mitochondrial disorders","disease_group":"Metabolic disorders","disease_sub_group":"Mitochondrial","status":"public","version":"2.1","version_created":"2019-10-01T15:59:44.993681Z","relevant_disorders":["Lactic acidosis","All recognised syndromes and those with suggestive features"],"stats":{"number_of_genes":467,"number_of_strs":2,"number_of_regions":1},"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"},{"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."}]}}]}
