{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FIP2","HYPL","FIP-2","TFIIIA-INTP","NRP","HIP7"],"biotype":"protein_coding","hgnc_id":"HGNC:17142","gene_name":"optineurin","omim_gene":["602432"],"alias_name":null,"gene_symbol":"OPTN","hgnc_symbol":"OPTN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:13141449-13180291","ensembl_id":"ENSG00000123240"}},"GRch38":{"90":{"location":"10:13099449-13138308","ensembl_id":"ENSG00000123240"}}},"hgnc_date_symbol_changed":"2001-11-16"},"entity_type":"gene","entity_name":"OPTN","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["11834836"],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Glaucoma 1, open angle, E \t137760","{Glaucoma, normal tension, susceptibility to} \t606657"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":249,"hash_id":"55507b25bb5a161bf644a3b2","name":"Glaucoma (developmental)","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.5","version_created":"2019-06-20T15:15:07.662717Z","relevant_disorders":[],"stats":{"number_of_genes":224,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FIP2","HYPL","FIP-2","TFIIIA-INTP","NRP","HIP7"],"biotype":"protein_coding","hgnc_id":"HGNC:17142","gene_name":"optineurin","omim_gene":["602432"],"alias_name":null,"gene_symbol":"OPTN","hgnc_symbol":"OPTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:13141449-13180291","ensembl_id":"ENSG00000123240"}},"GRch38":{"90":{"location":"10:13099449-13138308","ensembl_id":"ENSG00000123240"}}},"hgnc_date_symbol_changed":"2001-11-16"},"entity_type":"gene","entity_name":"OPTN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26303227","26203661","25943890","25859013","23889540","20428114","25681989"],"evidence":["Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH","Expert Review Green"],"phenotypes":["Glaucoma 1, open angle, E, 137760","Amyotrophic Lateral Sclerosis, Recessive"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["FIP2","HYPL","FIP-2","TFIIIA-INTP","NRP","HIP7"],"biotype":"protein_coding","hgnc_id":"HGNC:17142","gene_name":"optineurin","omim_gene":["602432"],"alias_name":null,"gene_symbol":"OPTN","hgnc_symbol":"OPTN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:13141449-13180291","ensembl_id":"ENSG00000123240"}},"GRch38":{"90":{"location":"10:13099449-13138308","ensembl_id":"ENSG00000123240"}}},"hgnc_date_symbol_changed":"2001-11-16"},"entity_type":"gene","entity_name":"OPTN","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 26566915 - \"Here, we report a Chinese family spanning three generations with ALS8 caused by the same VAPB-P56S mutation detected in these cohorts, but which in its initial manifestation displays different features. We also detected a R545Q variant of optineurin (OPTN) in this family and which was previously considered a pathogenic mutation. However, our analysis showed that OPTN-R545Q is benign and that VAPB-P56S accounts for the phenotype.\"","PMID: 26503823","PMID: 26303227 \"We conclude that: (i) OPTN mutations are associated with ALS","(ii) optineurin protein is present in a subset of the extramotor inclusions of C9ORF72-ALS","(iii) It is not uncommon for multiple ALS-causing mutations to occur in the same patient","and (iv) studies of optineurin are likely to provide useful dataregarding the pathophysiology of ALS and neurodegeneration.\"","PMID: 26203661","PMID: 25943890","PMID: 25859013 - functional evidence","PMID: 25681989"],"evidence":["Expert Review Green","Expert","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Amyotrophic Lateral Sclerosis, Recessive","Glaucoma 1, open angle, E, 137760"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["FIP2","HYPL","FIP-2","TFIIIA-INTP","NRP","HIP7"],"biotype":"protein_coding","hgnc_id":"HGNC:17142","gene_name":"optineurin","omim_gene":["602432"],"alias_name":null,"gene_symbol":"OPTN","hgnc_symbol":"OPTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:13141449-13180291","ensembl_id":"ENSG00000123240"}},"GRch38":{"90":{"location":"10:13099449-13138308","ensembl_id":"ENSG00000123240"}}},"hgnc_date_symbol_changed":"2001-11-16"},"entity_type":"gene","entity_name":"OPTN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["11834836"],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Glaucoma 1, open angle, E, 137760","{Glaucoma, normal tension, susceptibility to} 606657"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":509,"hash_id":null,"name":"Structural eye disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.93","version_created":"2019-10-09T13:18:12.923145Z","relevant_disorders":["R36"],"stats":{"number_of_genes":456,"number_of_strs":0,"number_of_regions":2},"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)"}]}}]}