{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7737","gene_name":"neurofilament heavy","omim_gene":["162230"],"alias_name":null,"gene_symbol":"NEFH","hgnc_symbol":"NEFH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29876219-29887379","ensembl_id":"ENSG00000100285"}},"GRch38":{"90":{"location":"22:29480230-29491390","ensembl_id":"ENSG00000100285"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"NEFH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","London North GLH"],"phenotypes":["CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, 616924"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":186,"hash_id":"553f95e2bb5a1616e5ed45c8","name":"Optic neuropathy","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"2.0","version_created":"2019-10-02T14:24:42.288499Z","relevant_disorders":["Inherited optic neuropathies","R41","R42.2"],"stats":{"number_of_genes":48,"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":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7737","gene_name":"neurofilament heavy","omim_gene":["162230"],"alias_name":null,"gene_symbol":"NEFH","hgnc_symbol":"NEFH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29876219-29887379","ensembl_id":"ENSG00000100285"}},"GRch38":{"90":{"location":"22:29480230-29491390","ensembl_id":"ENSG00000100285"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"NEFH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 24488689"],"evidence":["Expert Review Red","Wessex and West Midlands GLH","Yorkshire and North East GLH","London North GLH","NHS GMS","South West GLH"],"phenotypes":["susceptibility to amyotrophic lateral sclerosis (ALS)"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7737","gene_name":"neurofilament heavy","omim_gene":["162230"],"alias_name":null,"gene_symbol":"NEFH","hgnc_symbol":"NEFH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:29876219-29887379","ensembl_id":"ENSG00000100285"}},"GRch38":{"90":{"location":"22:29480230-29491390","ensembl_id":"ENSG00000100285"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"NEFH","confidence_level":"2","penetrance":"Incomplete","mode_of_pathogenicity":"","publications":["PMID: 24488689"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["susceptibility to amyotrophic lateral sclerosis (ALS)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7737","gene_name":"neurofilament heavy","omim_gene":["162230"],"alias_name":null,"gene_symbol":"NEFH","hgnc_symbol":"NEFH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29876219-29887379","ensembl_id":"ENSG00000100285"}},"GRch38":{"90":{"location":"22:29480230-29491390","ensembl_id":"ENSG00000100285"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"NEFH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","London North GLH"],"phenotypes":["Charcot-Marie-Tooth disease, axonal, type 2CC, 616924"],"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."}]}}]}
