{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["DSPG1","SLRR1A"],"biotype":"protein_coding","hgnc_id":"HGNC:1044","gene_name":"biglycan","omim_gene":["301870"],"alias_name":["biglycan proteoglycan"],"gene_symbol":"BGN","hgnc_symbol":"BGN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:152760397-152775012","ensembl_id":"ENSG00000182492"}},"GRch38":{"90":{"location":"X:153494939-153509554","ensembl_id":"ENSG00000182492"}}},"hgnc_date_symbol_changed":"1989-07-18"},"entity_type":"gene","entity_name":"BGN","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["ClinGen","Expert Review Red"],"phenotypes":["Familial thoracic aortic aneurysm and aortic dissection"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":210,"hash_id":"594be3878f62037ee3e7e72f","name":"ClinGen_Familial thoracic aortic aneurysm and aortic dissection","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2017-11-05T02:37:20.232365Z","relevant_disorders":[],"stats":{"number_of_genes":53,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"ClinGen Curated genes","slug":"clingen-curated-genes","description":"ClinGen Curated genes"}]}},{"gene_data":{"alias":["DSPG1","SLRR1A"],"biotype":"protein_coding","hgnc_id":"HGNC:1044","gene_name":"biglycan","omim_gene":["301870"],"alias_name":["biglycan proteoglycan"],"gene_symbol":"BGN","hgnc_symbol":"BGN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152760397-152775012","ensembl_id":"ENSG00000182492"}},"GRch38":{"90":{"location":"X:153494939-153509554","ensembl_id":"ENSG00000182492"}}},"hgnc_date_symbol_changed":"1989-07-18"},"entity_type":"gene","entity_name":"BGN","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["South West GLH","London South GLH","Expert Review Amber","South West GLH","London South GLH"],"phenotypes":["X-linked syndromic TAAD","syndromic thoracic aortic aneurysm and dissection"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":700,"hash_id":null,"name":"Thoracic aortic aneurysm and dissection","disease_group":"","disease_sub_group":"","status":"public","version":"0.32","version_created":"2019-10-02T11:56:22.695639Z","relevant_disorders":["R125"],"stats":{"number_of_genes":62,"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":["DSPG1","SLRR1A"],"biotype":"protein_coding","hgnc_id":"HGNC:1044","gene_name":"biglycan","omim_gene":["301870"],"alias_name":["biglycan proteoglycan"],"gene_symbol":"BGN","hgnc_symbol":"BGN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:152760397-152775012","ensembl_id":"ENSG00000182492"}},"GRch38":{"90":{"location":"X:153494939-153509554","ensembl_id":"ENSG00000182492"}}},"hgnc_date_symbol_changed":"1989-07-18"},"entity_type":"gene","entity_name":"BGN","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27632686"],"evidence":["South West GLH","London South GLH","Expert Review Green","Other"],"phenotypes":["syndromic thoracic aortic aneurysm and dissection","X-linked syndromic TAAD"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":1,"hash_id":"5596735822c1fc4f7d26e96d","name":"Thoracic aortic aneurysm or dissection","disease_group":"Cardiovascular disorders","disease_sub_group":"Connective tissue disorders and aortopathies","status":"public","version":"1.103","version_created":"2019-10-02T10:51:03.815181Z","relevant_disorders":["Familial retinal arteriolar tortuosity","FTAAD","Familial Thoracic Aortic Aneurysm Disease"],"stats":{"number_of_genes":63,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["DSPG1","SLRR1A"],"biotype":"protein_coding","hgnc_id":"HGNC:1044","gene_name":"biglycan","omim_gene":["301870"],"alias_name":["biglycan proteoglycan"],"gene_symbol":"BGN","hgnc_symbol":"BGN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:152760397-152775012","ensembl_id":"ENSG00000182492"}},"GRch38":{"90":{"location":"X:153494939-153509554","ensembl_id":"ENSG00000182492"}}},"hgnc_date_symbol_changed":"1989-07-18"},"entity_type":"gene","entity_name":"BGN","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27632686"],"evidence":["NHS GMS","Expert Review Green","Other"],"phenotypes":["Meester-Loeys syndrome, 300989"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":53,"hash_id":"588728f38f62030cf7152165","name":"Ehlers Danlos syndromes","disease_group":"Rheumatological disorders","disease_sub_group":"Connective tissues disorders","status":"public","version":"2.1","version_created":"2019-10-09T07:04:44.655768Z","relevant_disorders":["Classical Ehlers Danlos Syndrome","Classical Ehlers-Danlos Syndrome","Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense)","Ehlers-Danlos syndrome type 3","Kyphoscoliotic Ehlers-Danlos syndrome","EDS","Ehlers-Danlos syndromes","R101"],"stats":{"number_of_genes":75,"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":["DSPG1","SLRR1A"],"biotype":"protein_coding","hgnc_id":"HGNC:1044","gene_name":"biglycan","omim_gene":["301870"],"alias_name":["biglycan proteoglycan"],"gene_symbol":"BGN","hgnc_symbol":"BGN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152760397-152775012","ensembl_id":"ENSG00000182492"}},"GRch38":{"90":{"location":"X:153494939-153509554","ensembl_id":"ENSG00000182492"}}},"hgnc_date_symbol_changed":"1989-07-18"},"entity_type":"gene","entity_name":"BGN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27236923","27632686"],"evidence":["Expert Review Green","PAGE DD-Gene2Phenotype"],"phenotypes":["Severe syndromic form of thoracic aortic aneurysm & dissection","X-Linked Spondyloepimetaphyseal Dysplasia","Meester-Loeys syndrome, 300989","Spondyloepimetaphyseal dysplasia, X-linked, 300106"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["DSPG1","SLRR1A"],"biotype":"protein_coding","hgnc_id":"HGNC:1044","gene_name":"biglycan","omim_gene":["301870"],"alias_name":["biglycan proteoglycan"],"gene_symbol":"BGN","hgnc_symbol":"BGN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152760397-152775012","ensembl_id":"ENSG00000182492"}},"GRch38":{"90":{"location":"X:153494939-153509554","ensembl_id":"ENSG00000182492"}}},"hgnc_date_symbol_changed":"1989-07-18"},"entity_type":"gene","entity_name":"BGN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27632686"],"evidence":["Expert Review Green","DD-Gene2Phenotype"],"phenotypes":["Severe syndromic form of thoracic aortic aneurysm & dissection","X-Linked Spondyloepimetaphyseal Dysplasia"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["watchlist"],"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":["DSPG1","SLRR1A"],"biotype":"protein_coding","hgnc_id":"HGNC:1044","gene_name":"biglycan","omim_gene":["301870"],"alias_name":["biglycan proteoglycan"],"gene_symbol":"BGN","hgnc_symbol":"BGN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:152760397-152775012","ensembl_id":"ENSG00000182492"}},"GRch38":{"90":{"location":"X:153494939-153509554","ensembl_id":"ENSG00000182492"}}},"hgnc_date_symbol_changed":"1989-07-18"},"entity_type":"gene","entity_name":"BGN","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["X-Linked Spondyloepimetaphyseal Dysplasia","Severe syndromic form of thoracic aortic aneurysm & dissection"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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"}]}}]}
