{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA0723","MGC9105","VCPDM"],"biotype":"protein_coding","hgnc_id":"HGNC:6912","gene_name":"matrin 3","omim_gene":["164015"],"alias_name":null,"gene_symbol":"MATR3","hgnc_symbol":"MATR3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:138609441-138667360","ensembl_id":"ENSG00000015479"}},"GRch38":{"90":{"location":"5:139293648-139331677","ensembl_id":"ENSG00000015479"}}},"hgnc_date_symbol_changed":"1999-07-21"},"entity_type":"gene","entity_name":"MATR3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Distal Myopathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":235,"hash_id":"55b7a0bb22c1fc05fd2345d1","name":"Distal myopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.11","version_created":"2019-06-20T15:15:01.364887Z","relevant_disorders":[],"stats":{"number_of_genes":27,"number_of_strs":2,"number_of_regions":0},"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":["KIAA0723","MGC9105","VCPDM"],"biotype":"protein_coding","hgnc_id":"HGNC:6912","gene_name":"matrin 3","omim_gene":["164015"],"alias_name":null,"gene_symbol":"MATR3","hgnc_symbol":"MATR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:138609441-138667360","ensembl_id":"ENSG00000015479"}},"GRch38":{"90":{"location":"5:139293648-139331677","ensembl_id":"ENSG00000015479"}}},"hgnc_date_symbol_changed":"1999-07-21"},"entity_type":"gene","entity_name":"MATR3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24686783"],"evidence":["Expert Review Green"],"phenotypes":["Distal Myopathy","Amyotrophic lateral sclerosis 21 606070"],"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":["KIAA0723","MGC9105","VCPDM"],"biotype":"protein_coding","hgnc_id":"HGNC:6912","gene_name":"matrin 3","omim_gene":["164015"],"alias_name":null,"gene_symbol":"MATR3","hgnc_symbol":"MATR3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:138609441-138667360","ensembl_id":"ENSG00000015479"}},"GRch38":{"90":{"location":"5:139293648-139331677","ensembl_id":"ENSG00000015479"}}},"hgnc_date_symbol_changed":"1999-07-21"},"entity_type":"gene","entity_name":"MATR3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Amyotrophic lateral sclerosis 21 606070"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["KIAA0723","MGC9105","VCPDM"],"biotype":"protein_coding","hgnc_id":"HGNC:6912","gene_name":"matrin 3","omim_gene":["164015"],"alias_name":null,"gene_symbol":"MATR3","hgnc_symbol":"MATR3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:138609441-138667360","ensembl_id":"ENSG00000015479"}},"GRch38":{"90":{"location":"5:139293648-139331677","ensembl_id":"ENSG00000015479"}}},"hgnc_date_symbol_changed":"1999-07-21"},"entity_type":"gene","entity_name":"MATR3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24686783"],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Amyotrophic lateral sclerosis 21 606070"],"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":["KIAA0723","MGC9105","VCPDM"],"biotype":"protein_coding","hgnc_id":"HGNC:6912","gene_name":"matrin 3","omim_gene":["164015"],"alias_name":null,"gene_symbol":"MATR3","hgnc_symbol":"MATR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:138609441-138667360","ensembl_id":"ENSG00000015479"}},"GRch38":{"90":{"location":"5:139293648-139331677","ensembl_id":"ENSG00000015479"}}},"hgnc_date_symbol_changed":"1999-07-21"},"entity_type":"gene","entity_name":"MATR3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["19344878"],"evidence":["NHS GMS","Yorkshire and North East GLH","Expert Review"],"phenotypes":["Amyotrophic lateral sclerosis 21, 606070","ALS","myofibrillar myopathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":185,"hash_id":"55b7a65322c1fc05fc7a1869","name":"Limb girdle muscular dystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.89","version_created":"2019-06-20T15:15:12.994579Z","relevant_disorders":[],"stats":{"number_of_genes":84,"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)"}]}},{"gene_data":{"alias":["KIAA0723","MGC9105","VCPDM"],"biotype":"protein_coding","hgnc_id":"HGNC:6912","gene_name":"matrin 3","omim_gene":["164015"],"alias_name":null,"gene_symbol":"MATR3","hgnc_symbol":"MATR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:138609441-138667360","ensembl_id":"ENSG00000015479"}},"GRch38":{"90":{"location":"5:139293648-139331677","ensembl_id":"ENSG00000015479"}}},"hgnc_date_symbol_changed":"1999-07-21"},"entity_type":"gene","entity_name":"MATR3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["25771394","26493020","28029397"],"evidence":["NHS GMS","Yorkshire and North East GLH","Expert Review Amber"],"phenotypes":["Amyotrophic lateral sclerosis 21"],"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."}]}}]}