{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MGC23980","DENNL72"],"biotype":"protein_coding","hgnc_id":"HGNC:28337","gene_name":"chromosome 9 open reading frame 72","omim_gene":["614260"],"alias_name":null,"gene_symbol":"C9orf72","hgnc_symbol":"C9orf72","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:27546544-27573864","ensembl_id":"ENSG00000147894"}},"GRch38":{"90":{"location":"9:27546545-27573866","ensembl_id":"ENSG00000147894"}}},"hgnc_date_symbol_changed":"2004-01-06"},"entity_type":"gene","entity_name":"C9orf72","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["25326098","http://www.ncbi.nlm.nih.gov/pubmed/25326098"],"evidence":["Expert Review Red","Eligibility statement prior genetic testing","Expert"],"phenotypes":["(Hexanucleotideexpansion)","clinical presentation suggestive of cortico-basal/PSP syndrome","complex parkinsonism"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["nucleotide-repeat-expansion"],"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":["MGC23980","DENNL72"],"biotype":"protein_coding","hgnc_id":"HGNC:28337","gene_name":"chromosome 9 open reading frame 72","omim_gene":["614260"],"alias_name":null,"gene_symbol":"C9orf72","hgnc_symbol":"C9orf72","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:27546544-27573864","ensembl_id":"ENSG00000147894"}},"GRch38":{"90":{"location":"9:27546545-27573866","ensembl_id":"ENSG00000147894"}}},"hgnc_date_symbol_changed":"2004-01-06"},"entity_type":"gene","entity_name":"C9orf72","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":[],"evidence":["Expert Review Red","Eligibility statement prior genetic testing","UKGTN","Illumina TruGenome Clinical Sequencing Services"," UKGTN"," Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3","Amyotrophic Lateral Sclerosis/Frontotemporal Dementia","Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis","Clinical syndrome FTLD (Frontotemporal lobar degeneration)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["currently-ngs-unreportable","nucleotide-repeat-expansion"],"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":["MGC23980","DENNL72"],"biotype":"protein_coding","hgnc_id":"HGNC:28337","gene_name":"chromosome 9 open reading frame 72","omim_gene":["614260"],"alias_name":null,"gene_symbol":"C9orf72","hgnc_symbol":"C9orf72","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:27546544-27573864","ensembl_id":"ENSG00000147894"}},"GRch38":{"90":{"location":"9:27546545-27573866","ensembl_id":"ENSG00000147894"}}},"hgnc_date_symbol_changed":"2004-01-06"},"entity_type":"gene","entity_name":"C9orf72","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27059391","25638642","21944778","23597494","21944779","25326098","25326098"],"evidence":["Yorkshire and North East GLH","NHS GMS","South West GLH","Expert Review Red"],"phenotypes":["complex parkinsonism","Amyotrophic Lateral Sclerosis/Frontotemporal Dementia","Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3","clinical presentation suggestive of cortico-basal/PSP syndrome","(Hexanucleotideexpansion)","Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis","Clinical syndrome FTLD (Frontotemporal lobar degeneration)","Frontotemporal Dementia, Amyotrophic Lateral Sclerosis","Hexanucleotide repeat expansion","amyotrophic lateral sclerosis","frontotemporal dementia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["nucleotide-repeat-expansion","currently-ngs-unreportable"],"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":["MGC23980","DENNL72"],"biotype":"protein_coding","hgnc_id":"HGNC:28337","gene_name":"chromosome 9 open reading frame 72","omim_gene":["614260"],"alias_name":null,"gene_symbol":"C9orf72","hgnc_symbol":"C9orf72","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:27546544-27573864","ensembl_id":"ENSG00000147894"}},"GRch38":{"90":{"location":"9:27546545-27573866","ensembl_id":"ENSG00000147894"}}},"hgnc_date_symbol_changed":"2004-01-06"},"entity_type":"gene","entity_name":"C9orf72","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["PMID: 21944778","21944779","25638642","27059391","23597494"],"evidence":["Expert Review Red"," Eligibility statement prior genetic testing","Expert","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Amyotrophic Lateral Sclerosis/Frontotemporal Dementia","Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3","Hexanucleotide repeat expansion","Frontotemporal Dementia, Amyotrophic Lateral Sclerosis","amyotrophic lateral sclerosis","frontotemporal dementia","Frontotemporal Dementia, Amyotrophic Lateral Sclerosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["nucleotide-repeat-expansion"],"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":["MGC23980","DENNL72"],"biotype":"protein_coding","hgnc_id":"HGNC:28337","gene_name":"chromosome 9 open reading frame 72","omim_gene":["614260"],"alias_name":null,"gene_symbol":"C9orf72","hgnc_symbol":"C9orf72","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:27546544-27573864","ensembl_id":"ENSG00000147894"}},"GRch38":{"90":{"location":"9:27546545-27573866","ensembl_id":"ENSG00000147894"}}},"hgnc_date_symbol_changed":"2004-01-06"},"entity_type":"gene","entity_name":"C9orf72","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Literature","Expert Review Amber"],"phenotypes":["Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["currently-ngs-unreportable","nucleotide-repeat-expansion"],"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":["MGC23980","DENNL72"],"biotype":"protein_coding","hgnc_id":"HGNC:28337","gene_name":"chromosome 9 open reading frame 72","omim_gene":["614260"],"alias_name":null,"gene_symbol":"C9orf72","hgnc_symbol":"C9orf72","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:27546544-27573864","ensembl_id":"ENSG00000147894"}},"GRch38":{"90":{"location":"9:27546545-27573866","ensembl_id":"ENSG00000147894"}}},"hgnc_date_symbol_changed":"2004-01-06"},"entity_type":"gene","entity_name":"C9orf72","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["25326098"],"evidence":["NHS GMS","South West GLH","Expert Review Red"],"phenotypes":["complex parkinsonism","(Hexanucleotideexpansion)","clinical presentation suggestive of cortico-basal/PSP syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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)"}]}}]}