{"count":16,"next":null,"previous":null,"results":[{"gene_data":{"alias":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["Journal Sleep Research (2012),  21(Suppl 1), P891","2788404"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":213,"hash_id":"55ace3c022c1fc7042059034","name":"Kleine-Levin syndrome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Sleep disorders","status":"public","version":"1.4","version_created":"2019-06-20T15:15:12.561039Z","relevant_disorders":["Kleine-Levin syndrome and other inherited sleep disorders"],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["PMID: 23770606","PMID: 10441575","PMID 29529714"],"evidence":["Expert Review Green","Other"],"phenotypes":["Chondrosarcoma\t215300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":391,"hash_id":null,"name":"Adult solid tumours for rare disease","disease_group":"Tumour syndromes","disease_sub_group":"Tumour syndromes","status":"public","version":"1.22","version_created":"2019-06-20T15:10:02.142139Z","relevant_disorders":["Young adult onset cancer","Exceptionally young adult onset cancer","Multiple Tumours","Rare tumour predisposition syndromes"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23770606","29529714","10441575"],"evidence":["Expert Review Green","Adult solid tumours for rare disease (Version 1.21)"],"phenotypes":["Chondrosarcoma 215300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":470,"hash_id":null,"name":"Tumour predisposition - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.1","version_created":"2019-06-20T15:14:23.703488Z","relevant_disorders":[],"stats":{"number_of_genes":63,"number_of_strs":0,"number_of_regions":2},"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":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["12417417"],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Literature","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory"],"phenotypes":["Exostoses, multiple, type 1 133700","Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":25,"hash_id":"58346b8b8f62036225ca8a7d","name":"Congenital disorders of glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.32","version_created":"2019-10-07T16:15:06.398101Z","relevant_disorders":["Congential disorders of glycosylation"],"stats":{"number_of_genes":100,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","SFARI"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":657,"hash_id":null,"name":"Autism","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-06-20T15:10:14.437740Z","relevant_disorders":[],"stats":{"number_of_genes":733,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Research","slug":"research","description":"This is a gene panel used for research."}]}},{"gene_data":{"alias":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["2788404","Journal Sleep Research (2012),  21(Suppl 1), P891"],"evidence":["Expert Review Red","NHS GMS","London North GLH","Wessex and West Midlands GLH"],"phenotypes":["Exostoses, multiple, type 1,133700","Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":541,"hash_id":null,"name":"Paroxysmal central nervous system disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.168","version_created":"2019-10-01T13:39:46.962209Z","relevant_disorders":["Paroxysmal neurological disorders","pain disorders and sleep disorders"],"stats":{"number_of_genes":83,"number_of_strs":5,"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)"}]}},{"gene_data":{"alias":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["23770606","10441575","29529714"],"evidence":["Expert Review Amber","Other"],"phenotypes":["Chondrosarcoma 215300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":217,"hash_id":"59708b898f62035a04257dd8","name":"Sarcoma cancer susceptibility","disease_group":"Cancer Programme","disease_sub_group":"Pertinent cancer susceptibility gene panel","status":"public","version":"1.14","version_created":"2019-07-23T15:18:37.413610Z","relevant_disorders":["Sarcoma;Sarcoma pertinent cancer susceptibility"],"stats":{"number_of_genes":33,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline 100K","slug":"cancer-germline-100k","description":"Cancer Germline 100K"}]}},{"gene_data":{"alias":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["29529714","10441575","23770606"],"evidence":["NHS GMS","Expert Review Amber","Other"],"phenotypes":["Chondrosarcoma 215300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":245,"hash_id":"595ce30f8f62036352471f39","name":"Adult solid tumours cancer susceptibility","disease_group":"Cancer Programme","disease_sub_group":"Pertinent cancer susceptibility gene panel","status":"public","version":"1.7","version_created":"2019-08-13T09:55:08.772098Z","relevant_disorders":["Carcinoma of unknown primary","Other","Adult solid tumours pertinent cancer susceptibility"],"stats":{"number_of_genes":103,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline 100K","slug":"cancer-germline-100k","description":"Cancer Germline 100K"},{"name":"GMS Cancer Germline Virtual","slug":"gms-cancer-germline-virtual","description":"This is a panel used for WGS germline analysis for the GMS."}]}},{"gene_data":{"alias":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Expert list","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","UKGTN","Radboud University Medical Center, Nijmegen",""],"phenotypes":["trichorhinophalangeal syndrome type 2 -150230","Exostoses, multiple, type 1\t133700","Exostoses, multiple, type  13370"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":309,"hash_id":"5693952f22c1fc251660fb1e","name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.203","version_created":"2019-10-03T09:38:50.417968Z","relevant_disorders":["Unexplained skeletal dysplasia","Skeletal dysplasia"],"stats":{"number_of_genes":546,"number_of_strs":1,"number_of_regions":6},"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":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)","Exostoses, multiple, type 1 133700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)","Exostoses, multiple, type 1 133700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["HEREDITARY MULTIPLE EXOSTOSES TYPE 1","TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":478,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","status":"public","version":"0.344","version_created":"2019-09-17T09:38:10.568007Z","relevant_disorders":["R21"],"stats":{"number_of_genes":1721,"number_of_strs":0,"number_of_regions":0},"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":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"0","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","Emory Genetics Laboratory"],"phenotypes":["Disproportionate Short Stature"],"mode_of_inheritance":"","tags":[],"panel":{"id":196,"hash_id":"55896ed2bb5a1671a7fef4f9","name":"Osteogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-09-04T11:35:54.595856Z","relevant_disorders":["Osteogenesis Imperfecta","R102"],"stats":{"number_of_genes":184,"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":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8981950","9326317","15253765","7550340"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["HEREDITARY MULTIPLE EXOSTOSES TYPE 1 133700","TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 150230"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"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":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Gene2Phenotype confirmed gene with ID HPO"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["ttv"],"biotype":"protein_coding","hgnc_id":"HGNC:3512","gene_name":"exostosin glycosyltransferase 1","omim_gene":["608177"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT1","hgnc_symbol":"EXT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:118806729-119124092","ensembl_id":"ENSG00000182197"}},"GRch38":{"90":{"location":"8:117794490-118111853","ensembl_id":"ENSG00000182197"}}},"hgnc_date_symbol_changed":"1993-05-04"},"entity_type":"gene","entity_name":"EXT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23770606","29529714","10441575"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Chondrosarcoma 215300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":734,"hash_id":null,"name":"Sarcoma susceptibility","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-08-06T10:07:36.980082Z","relevant_disorders":[],"stats":{"number_of_genes":42,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Cancer Germline Virtual","slug":"gms-cancer-germline-virtual","description":"This is a panel used for WGS germline analysis for the GMS."}]}}]}
