{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MDS010","MGC32995","9630046K23Rik","MDSRP","hCLP46","KDELCL1","Rumi"],"biotype":"protein_coding","hgnc_id":"HGNC:22954","gene_name":"protein O-glucosyltransferase 1","omim_gene":["615618"],"alias_name":["KDELC family like 1"],"gene_symbol":"POGLUT1","hgnc_symbol":"POGLUT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:119187785-119213555","ensembl_id":"ENSG00000163389"}},"GRch38":{"90":{"location":"3:119468938-119494708","ensembl_id":"ENSG00000163389"}}},"hgnc_date_symbol_changed":"2010-09-29"},"entity_type":"gene","entity_name":"POGLUT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Dowling-Degos disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":559,"hash_id":null,"name":"Pigmentary skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-09-17T17:51:23.014209Z","relevant_disorders":[],"stats":{"number_of_genes":102,"number_of_strs":0,"number_of_regions":1},"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":["MDS010","MGC32995","9630046K23Rik","MDSRP","hCLP46","KDELCL1","Rumi"],"biotype":"protein_coding","hgnc_id":"HGNC:22954","gene_name":"protein O-glucosyltransferase 1","omim_gene":["615618"],"alias_name":["KDELC family like 1"],"gene_symbol":"POGLUT1","hgnc_symbol":"POGLUT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:119187785-119213555","ensembl_id":"ENSG00000163389"}},"GRch38":{"90":{"location":"3:119468938-119494708","ensembl_id":"ENSG00000163389"}}},"hgnc_date_symbol_changed":"2010-09-29"},"entity_type":"gene","entity_name":"POGLUT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27807076"],"evidence":["Expert Review Amber","NHS GMS","London South GLH"],"phenotypes":["?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["watchlist"],"panel":{"id":207,"hash_id":"55b117c022c1fc7dd7ce411c","name":"Congenital muscular dystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.62","version_created":"2019-10-09T12:19:40.245789Z","relevant_disorders":[],"stats":{"number_of_genes":53,"number_of_strs":1,"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":["MDS010","MGC32995","9630046K23Rik","MDSRP","hCLP46","KDELCL1","Rumi"],"biotype":"protein_coding","hgnc_id":"HGNC:22954","gene_name":"protein O-glucosyltransferase 1","omim_gene":["615618"],"alias_name":["KDELC family like 1"],"gene_symbol":"POGLUT1","hgnc_symbol":"POGLUT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:119187785-119213555","ensembl_id":"ENSG00000163389"}},"GRch38":{"90":{"location":"3:119468938-119494708","ensembl_id":"ENSG00000163389"}}},"hgnc_date_symbol_changed":"2010-09-29"},"entity_type":"gene","entity_name":"POGLUT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27807076"],"evidence":["NHS GMS","Yorkshire and North East GLH","Expert Review Red","Expert list"],"phenotypes":["Limb-girdle muscular dystrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["MDS010","MGC32995","9630046K23Rik","MDSRP","hCLP46","KDELCL1","Rumi"],"biotype":"protein_coding","hgnc_id":"HGNC:22954","gene_name":"protein O-glucosyltransferase 1","omim_gene":["615618"],"alias_name":["KDELC family like 1"],"gene_symbol":"POGLUT1","hgnc_symbol":"POGLUT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:119187785-119213555","ensembl_id":"ENSG00000163389"}},"GRch38":{"90":{"location":"3:119468938-119494708","ensembl_id":"ENSG00000163389"}}},"hgnc_date_symbol_changed":"2010-09-29"},"entity_type":"gene","entity_name":"POGLUT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"","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"}]}}]}
