{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CYP5","CYP5A1","THAS","TXS","TXAS","TS"],"biotype":"protein_coding","hgnc_id":"HGNC:11609","gene_name":"thromboxane A synthase 1","omim_gene":["274180"],"alias_name":["cytochrome P450, family 5, subfamily A, polypeptide 1"],"gene_symbol":"TBXAS1","hgnc_symbol":"TBXAS1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:139476850-139720125","ensembl_id":"ENSG00000059377"}},"GRch38":{"90":{"location":"7:139777051-140020325","ensembl_id":"ENSG00000059377"}}},"hgnc_date_symbol_changed":"1992-10-07"},"entity_type":"gene","entity_name":"TBXAS1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BRIDGE Study Tier 1 Gene"],"phenotypes":["Ghosal syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":175,"hash_id":"5763f32a8f620350a22bccde","name":"Inherited bleeding disorders","disease_group":"Haematological and immunological disorders","disease_sub_group":"Haemostasis disorders","status":"public","version":"1.156","version_created":"2019-08-09T13:55:23.938344Z","relevant_disorders":["Inherited platelet disorders","Monogenic thrombophilia","Inherited bleeding and or platelet disorders","Unprovoked Thrombosis before 40","Monogenic venous thrombosis"],"stats":{"number_of_genes":119,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CYP5","CYP5A1","THAS","TXS","TXAS","TS"],"biotype":"protein_coding","hgnc_id":"HGNC:11609","gene_name":"thromboxane A synthase 1","omim_gene":["274180"],"alias_name":["cytochrome P450, family 5, subfamily A, polypeptide 1"],"gene_symbol":"TBXAS1","hgnc_symbol":"TBXAS1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:139476850-139720125","ensembl_id":"ENSG00000059377"}},"GRch38":{"90":{"location":"7:139777051-140020325","ensembl_id":"ENSG00000059377"}}},"hgnc_date_symbol_changed":"1992-10-07"},"entity_type":"gene","entity_name":"TBXAS1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","UKGTN","Expert list",""],"phenotypes":["Ghosal hematodiaphyseal syndrome 231095"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["CYP5","CYP5A1","THAS","TXS","TXAS","TS"],"biotype":"protein_coding","hgnc_id":"HGNC:11609","gene_name":"thromboxane A synthase 1","omim_gene":["274180"],"alias_name":["cytochrome P450, family 5, subfamily A, polypeptide 1"],"gene_symbol":"TBXAS1","hgnc_symbol":"TBXAS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:139476850-139720125","ensembl_id":"ENSG00000059377"}},"GRch38":{"90":{"location":"7:139777051-140020325","ensembl_id":"ENSG00000059377"}}},"hgnc_date_symbol_changed":"1992-10-07"},"entity_type":"gene","entity_name":"TBXAS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18264100","28868793"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["231095 Ghosal hematodiaphyseal syndrome","614158 ?Thromboxane synthase deficiency","614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":545,"hash_id":null,"name":"Bleeding and platelet disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.78","version_created":"2019-09-23T11:07:54.788299Z","relevant_disorders":["R90"],"stats":{"number_of_genes":111,"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)"}]}},{"gene_data":{"alias":["CYP5","CYP5A1","THAS","TXS","TXAS","TS"],"biotype":"protein_coding","hgnc_id":"HGNC:11609","gene_name":"thromboxane A synthase 1","omim_gene":["274180"],"alias_name":["cytochrome P450, family 5, subfamily A, polypeptide 1"],"gene_symbol":"TBXAS1","hgnc_symbol":"TBXAS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:139476850-139720125","ensembl_id":"ENSG00000059377"}},"GRch38":{"90":{"location":"7:139777051-140020325","ensembl_id":"ENSG00000059377"}}},"hgnc_date_symbol_changed":"1992-10-07"},"entity_type":"gene","entity_name":"TBXAS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["GHOSAL HEMATODIAPHYSEAL SYNDROME"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["CYP5","CYP5A1","THAS","TXS","TXAS","TS"],"biotype":"protein_coding","hgnc_id":"HGNC:11609","gene_name":"thromboxane A synthase 1","omim_gene":["274180"],"alias_name":["cytochrome P450, family 5, subfamily A, polypeptide 1"],"gene_symbol":"TBXAS1","hgnc_symbol":"TBXAS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:139476850-139720125","ensembl_id":"ENSG00000059377"}},"GRch38":{"90":{"location":"7:139777051-140020325","ensembl_id":"ENSG00000059377"}}},"hgnc_date_symbol_changed":"1992-10-07"},"entity_type":"gene","entity_name":"TBXAS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["GHOSAL HEMATODIAPHYSEAL SYNDROME 231095"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["CYP5","CYP5A1","THAS","TXS","TXAS","TS"],"biotype":"protein_coding","hgnc_id":"HGNC:11609","gene_name":"thromboxane A synthase 1","omim_gene":["274180"],"alias_name":["cytochrome P450, family 5, subfamily A, polypeptide 1"],"gene_symbol":"TBXAS1","hgnc_symbol":"TBXAS1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:139476850-139720125","ensembl_id":"ENSG00000059377"}},"GRch38":{"90":{"location":"7:139777051-140020325","ensembl_id":"ENSG00000059377"}}},"hgnc_date_symbol_changed":"1992-10-07"},"entity_type":"gene","entity_name":"TBXAS1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Ghosal hematodiaphyseal syndrome, 231095","?Thromboxane synthase","deficiency, 614158"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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"}]}}]}