{"count":13,"next":null,"previous":null,"results":[{"gene_data":{"alias":["DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"biotype":"protein_coding","hgnc_id":"HGNC:2974","gene_name":"dynamin 2","omim_gene":["602378"],"alias_name":["dynamin II","cytoskeletal protein"],"gene_symbol":"DNM2","hgnc_symbol":"DNM2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:10828755-10944164","ensembl_id":"ENSG00000079805"}},"GRch38":{"90":{"location":"19:10718079-10833488","ensembl_id":"ENSG00000079805"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"DNM2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Myopathy, centronuclear,\t160150"],"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":["DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"biotype":"protein_coding","hgnc_id":"HGNC:2974","gene_name":"dynamin 2","omim_gene":["602378"],"alias_name":["dynamin II","cytoskeletal protein"],"gene_symbol":"DNM2","hgnc_symbol":"DNM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10828755-10944164","ensembl_id":"ENSG00000079805"}},"GRch38":{"90":{"location":"19:10718079-10833488","ensembl_id":"ENSG00000079805"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"DNM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22396310"],"evidence":["Expert Review Green"],"phenotypes":["Charcot-Marie-Tooth disease, axonal, type 2M, 606482","Myopathy, centronuclear, 160150","Myopathy, centronuclear,"],"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":["DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"biotype":"protein_coding","hgnc_id":"HGNC:2974","gene_name":"dynamin 2","omim_gene":["602378"],"alias_name":["dynamin II","cytoskeletal protein"],"gene_symbol":"DNM2","hgnc_symbol":"DNM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10828755-10944164","ensembl_id":"ENSG00000079805"}},"GRch38":{"90":{"location":"19:10718079-10833488","ensembl_id":"ENSG00000079805"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"DNM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25492887"],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Charcot-Marie-Tooth disease, dominant intermediate B, 606482","Charcot-Marie-Tooth disease, axonal type 2M, 606482","Centronuclear myopathy 1, 160150"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":533,"hash_id":null,"name":"Mitochondrial DNA maintenance disorder","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-07-31T15:48:25.333570Z","relevant_disorders":["R352"],"stats":{"number_of_genes":27,"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":["DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"biotype":"protein_coding","hgnc_id":"HGNC:2974","gene_name":"dynamin 2","omim_gene":["602378"],"alias_name":["dynamin II","cytoskeletal protein"],"gene_symbol":"DNM2","hgnc_symbol":"DNM2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:10828755-10944164","ensembl_id":"ENSG00000079805"}},"GRch38":{"90":{"location":"19:10718079-10833488","ensembl_id":"ENSG00000079805"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"DNM2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23092955"],"evidence":["Expert Review Green","Expert","UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Lethal congenital contracture syndrome 5 615368"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"biotype":"protein_coding","hgnc_id":"HGNC:2974","gene_name":"dynamin 2","omim_gene":["602378"],"alias_name":["dynamin II","cytoskeletal protein"],"gene_symbol":"DNM2","hgnc_symbol":"DNM2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:10828755-10944164","ensembl_id":"ENSG00000079805"}},"GRch38":{"90":{"location":"19:10718079-10833488","ensembl_id":"ENSG00000079805"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"DNM2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22396310"],"evidence":["NHS GMS","London South GLH","Expert Review Green","Expert","Radboud University Medical Center, Nijmegen","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Myopathy, centronuclear, 160150","Charcot-Marie-Tooth disease, axonal, type 2M, 606482"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["missense"],"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":["DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"biotype":"protein_coding","hgnc_id":"HGNC:2974","gene_name":"dynamin 2","omim_gene":["602378"],"alias_name":["dynamin II","cytoskeletal protein"],"gene_symbol":"DNM2","hgnc_symbol":"DNM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10828755-10944164","ensembl_id":"ENSG00000079805"}},"GRch38":{"90":{"location":"19:10718079-10833488","ensembl_id":"ENSG00000079805"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"DNM2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17932957"],"evidence":["NHS GMS","Yorkshire and North East GLH","Expert Review"],"phenotypes":["Centronuclear myopathy 1, 160150","Centronuclear 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":["DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"biotype":"protein_coding","hgnc_id":"HGNC:2974","gene_name":"dynamin 2","omim_gene":["602378"],"alias_name":["dynamin II","cytoskeletal protein"],"gene_symbol":"DNM2","hgnc_symbol":"DNM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10828755-10944164","ensembl_id":"ENSG00000079805"}},"GRch38":{"90":{"location":"19:10718079-10833488","ensembl_id":"ENSG00000079805"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"DNM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","London South GLH"],"phenotypes":["Myopathy, centronuclear, 160150"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":547,"hash_id":null,"name":"Neuromuscular arthrogryposis","disease_group":"","disease_sub_group":"","status":"public","version":"0.19","version_created":"2019-08-01T14:55:50.898576Z","relevant_disorders":[],"stats":{"number_of_genes":40,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"biotype":"protein_coding","hgnc_id":"HGNC:2974","gene_name":"dynamin 2","omim_gene":["602378"],"alias_name":["dynamin II","cytoskeletal protein"],"gene_symbol":"DNM2","hgnc_symbol":"DNM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10828755-10944164","ensembl_id":"ENSG00000079805"}},"GRch38":{"90":{"location":"19:10718079-10833488","ensembl_id":"ENSG00000079805"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"DNM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18560793","17932957","17636067","17008356","16227997","15731758"],"evidence":["Expert Review Green","Other"],"phenotypes":["Centronuclear myopathy 1 160150","Charcot-Marie-Tooth disease, axonal type 2M 606482","Charcot-Marie-Tooth disease, dominant intermediate B\t606482"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"biotype":"protein_coding","hgnc_id":"HGNC:2974","gene_name":"dynamin 2","omim_gene":["602378"],"alias_name":["dynamin II","cytoskeletal protein"],"gene_symbol":"DNM2","hgnc_symbol":"DNM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10828755-10944164","ensembl_id":"ENSG00000079805"}},"GRch38":{"90":{"location":"19:10718079-10833488","ensembl_id":"ENSG00000079805"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"DNM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18560793","17932957","17636067","17008356","16227997","15731758"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Centronuclear myopathy 1 160150","Charcot-Marie-Tooth disease, axonal type 2M 606482","Charcot-Marie-Tooth disease, dominant intermediate B\t606482"],"mode_of_inheritance":"Unknown","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":["DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"biotype":"protein_coding","hgnc_id":"HGNC:2974","gene_name":"dynamin 2","omim_gene":["602378"],"alias_name":["dynamin II","cytoskeletal protein"],"gene_symbol":"DNM2","hgnc_symbol":"DNM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10828755-10944164","ensembl_id":"ENSG00000079805"}},"GRch38":{"90":{"location":"19:10718079-10833488","ensembl_id":"ENSG00000079805"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"DNM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25492887","https://doi.org/10.1016/j.nmd.2012.06.124"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Charcot-Marie-Tooth disease, dominant intermediate B, 606482","Charcot-Marie-Tooth disease, axonal type 2M, 606482","Centronuclear myopathy 1, 160150"],"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":["DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"biotype":"protein_coding","hgnc_id":"HGNC:2974","gene_name":"dynamin 2","omim_gene":["602378"],"alias_name":["dynamin II","cytoskeletal protein"],"gene_symbol":"DNM2","hgnc_symbol":"DNM2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:10828755-10944164","ensembl_id":"ENSG00000079805"}},"GRch38":{"90":{"location":"19:10718079-10833488","ensembl_id":"ENSG00000079805"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"DNM2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["15731758"],"evidence":["South West GLH","NHS GMS","London North GLH","Expert Review Green","Emory Genetics Laboratory","UKGTN","Expert list","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Charcot Marie Tooth disease, dominant intermediate B, 606482","Myopathy, centronuclear, 160150","Myopathy, centronuclear, 160150","Lethal congenital contracture syndrome 5, 615368","Charcot Marie Tooth disease, axonal, type 2M, 606482","Charcot-Marie-Tooth, Intermediate","Lethal congenital contracture syndrome 5, 615368","Charcot Marie Tooth disease, axonal, type 2M, 606482","Charcot-Marie-Tooth, Intermediate"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"biotype":"protein_coding","hgnc_id":"HGNC:2974","gene_name":"dynamin 2","omim_gene":["602378"],"alias_name":["dynamin II","cytoskeletal protein"],"gene_symbol":"DNM2","hgnc_symbol":"DNM2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:10828755-10944164","ensembl_id":"ENSG00000079805"}},"GRch38":{"90":{"location":"19:10718079-10833488","ensembl_id":"ENSG00000079805"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"DNM2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Charcot Marie Tooth disease, axonal, type 2M, 606482","Charcot Marie Tooth disease, dominant intermediate B, 606482"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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"}]}},{"gene_data":{"alias":["DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"biotype":"protein_coding","hgnc_id":"HGNC:2974","gene_name":"dynamin 2","omim_gene":["602378"],"alias_name":["dynamin II","cytoskeletal protein"],"gene_symbol":"DNM2","hgnc_symbol":"DNM2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:10828755-10944164","ensembl_id":"ENSG00000079805"}},"GRch38":{"90":{"location":"19:10718079-10833488","ensembl_id":"ENSG00000079805"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"DNM2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23813975","https://doi.org/10.1016/j.nmd.2012.06.124"],"evidence":["Expert Review Green","NHS GMS","Expert list"],"phenotypes":["Centronuclear myopathy 1, 160150","Charcot-Marie-Tooth disease, axonal type 2M, 606482","Charcot-Marie-Tooth disease, dominant intermediate B, 606482"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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."}]}}]}
