{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["RNF108","PEP5"],"biotype":"protein_coding","hgnc_id":"HGNC:14583","gene_name":"VPS11, CORVET/HOPS core subunit","omim_gene":["608549"],"alias_name":null,"gene_symbol":"VPS11","hgnc_symbol":"VPS11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118938403-118952688","ensembl_id":"ENSG00000160695"}},"GRch38":{"90":{"location":"11:119067692-119081978","ensembl_id":"ENSG00000160695"}}},"hgnc_date_symbol_changed":"2001-02-08"},"entity_type":"gene","entity_name":"VPS11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["26307567,  27120463"],"evidence":["Expert Review Red"],"phenotypes":["Leukodystrophy, hypomyelinating, 12, MIM#616683"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":476,"hash_id":null,"name":"White matter disorders and cerebral calcification - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.9","version_created":"2019-08-08T11:56:25.970239Z","relevant_disorders":[],"stats":{"number_of_genes":191,"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":["RNF108","PEP5"],"biotype":"protein_coding","hgnc_id":"HGNC:14583","gene_name":"VPS11, CORVET/HOPS core subunit","omim_gene":["608549"],"alias_name":null,"gene_symbol":"VPS11","hgnc_symbol":"VPS11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118938403-118952688","ensembl_id":"ENSG00000160695"}},"GRch38":{"90":{"location":"11:119067692-119081978","ensembl_id":"ENSG00000160695"}}},"hgnc_date_symbol_changed":"2001-02-08"},"entity_type":"gene","entity_name":"VPS11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["26307567,  27120463"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Leukodystrophy, hypomyelinating, 12, MIM#616683"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":42,"hash_id":"568f920822c1fc1c79ca177a","name":"Inherited white matter disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"White matter disorders","status":"public","version":"1.71","version_created":"2019-08-08T12:01:29.978699Z","relevant_disorders":["Leukodystrophy - adult onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["RNF108","PEP5"],"biotype":"protein_coding","hgnc_id":"HGNC:14583","gene_name":"VPS11, CORVET/HOPS core subunit","omim_gene":["608549"],"alias_name":null,"gene_symbol":"VPS11","hgnc_symbol":"VPS11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118938403-118952688","ensembl_id":"ENSG00000160695"}},"GRch38":{"90":{"location":"11:119067692-119081978","ensembl_id":"ENSG00000160695"}}},"hgnc_date_symbol_changed":"2001-02-08"},"entity_type":"gene","entity_name":"VPS11","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["27473128","26307567","27120463"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review","Expert Review Green","Expert Review Green","Expert Review","Literature"],"phenotypes":["Leukodystrophy, hypomyelinating, 12 (MIM 616683)","Leukodystrophy, hypomyelinating, 12"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":402,"hash_id":null,"name":"Genetic epilepsy syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Inherited Epilepsy Syndromes","status":"public","version":"1.363","version_created":"2019-10-08T10:06:11.607307Z","relevant_disorders":["Epilepsy Plus","Epilepsy plus other features","Genetic Epilepsy Syndromes","Epileptic encephalopathy","Familial Focal Epilepsies","Familial Genetic Generalised Epilepsies","Genetic Epilepsies with Febrile Seizures Plus (GEFS+)","Genetic Epilepsies with Febrile Seizures Plus"],"stats":{"number_of_genes":614,"number_of_strs":2,"number_of_regions":13},"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":["RNF108","PEP5"],"biotype":"protein_coding","hgnc_id":"HGNC:14583","gene_name":"VPS11, CORVET/HOPS core subunit","omim_gene":["608549"],"alias_name":null,"gene_symbol":"VPS11","hgnc_symbol":"VPS11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118938403-118952688","ensembl_id":"ENSG00000160695"}},"GRch38":{"90":{"location":"11:119067692-119081978","ensembl_id":"ENSG00000160695"}}},"hgnc_date_symbol_changed":"2001-02-08"},"entity_type":"gene","entity_name":"VPS11","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["27473128","26307567","27120463"],"evidence":["Expert Review Amber","Expert Review","Expert Review Amber","Expert Review","Radboud University Medical Center, Nijmegen","Literature"],"phenotypes":["Leukodystrophy, hypomyelinating, 12, 616683","Leukodystrophy, hypomyelinating, 12 (MIM 616683)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["watchlist"],"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"}]}}]}
