{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":["HHT2","ALK1","HHT"],"biotype":"protein_coding","hgnc_id":"HGNC:175","gene_name":"activin A receptor like type 1","omim_gene":["601284"],"alias_name":null,"gene_symbol":"ACVRL1","hgnc_symbol":"ACVRL1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:52300692-52317145","ensembl_id":"ENSG00000139567"}},"GRch38":{"90":{"location":"12:51906908-51923361","ensembl_id":"ENSG00000139567"}}},"hgnc_date_symbol_changed":"1994-12-12"},"entity_type":"gene","entity_name":"ACVRL1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","ClinGen"],"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":["HHT2","ALK1","HHT"],"biotype":"protein_coding","hgnc_id":"HGNC:175","gene_name":"activin A receptor like type 1","omim_gene":["601284"],"alias_name":null,"gene_symbol":"ACVRL1","hgnc_symbol":"ACVRL1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:52300692-52317145","ensembl_id":"ENSG00000139567"}},"GRch38":{"90":{"location":"12:51906908-51923361","ensembl_id":"ENSG00000139567"}}},"hgnc_date_symbol_changed":"1994-12-12"},"entity_type":"gene","entity_name":"ACVRL1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["Telangiectasia, hereditary hemorrhagic, type 2  600376"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":147,"hash_id":"5819a24f8f6203341de99c89","name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Cerebrovascular disorders","status":"public","version":"1.47","version_created":"2019-09-13T13:47:21.970257Z","relevant_disorders":["Cerebrovascular disorders","Vein of Galen malformation","Cerebral arteriovenous malformations","Moyamoya disease"],"stats":{"number_of_genes":95,"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 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":["HHT2","ALK1","HHT"],"biotype":"protein_coding","hgnc_id":"HGNC:175","gene_name":"activin A receptor like type 1","omim_gene":["601284"],"alias_name":null,"gene_symbol":"ACVRL1","hgnc_symbol":"ACVRL1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:52300692-52317145","ensembl_id":"ENSG00000139567"}},"GRch38":{"90":{"location":"12:51906908-51923361","ensembl_id":"ENSG00000139567"}}},"hgnc_date_symbol_changed":"1994-12-12"},"entity_type":"gene","entity_name":"ACVRL1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Emory Genetics Laboratory"],"phenotypes":["Telangiectasia, hereditary hemorrhagic, type 2"],"mode_of_inheritance":"","tags":[],"panel":{"id":200,"hash_id":"563259de22c1fc58285b2840","name":"Familial pulmonary fibrosis","disease_group":"Respiratory disorders","disease_sub_group":"Interstitial lung disorders","status":"public","version":"1.6","version_created":"2019-08-20T14:18:14.336659Z","relevant_disorders":[],"stats":{"number_of_genes":71,"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 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":["HHT2","ALK1","HHT"],"biotype":"protein_coding","hgnc_id":"HGNC:175","gene_name":"activin A receptor like type 1","omim_gene":["601284"],"alias_name":null,"gene_symbol":"ACVRL1","hgnc_symbol":"ACVRL1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:52300692-52317145","ensembl_id":"ENSG00000139567"}},"GRch38":{"90":{"location":"12:51906908-51923361","ensembl_id":"ENSG00000139567"}}},"hgnc_date_symbol_changed":"1994-12-12"},"entity_type":"gene","entity_name":"ACVRL1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["8640225","16155196","14684682"],"evidence":["NHS GMS","Eligibility statement prior genetic testing","Expert Review Green","Emory Genetics Laboratory","UKGTN","Radboud University Medical Center, Nijmegen","UKGTN","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen"],"phenotypes":["Telangiectasia, hereditary hemorrhagic, type 2 600376","epistaxis","telangiectasia","hepatic arteriovenous malformation","pulmonary arteriovenous malformation","cerebral pulmonary arteriovenous malformation","pulmonary arterial hypertension"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":123,"hash_id":"5633857722c1fc582756e3d9","name":"Hereditary haemorrhagic telangiectasia","disease_group":"Respiratory disorders","disease_sub_group":"Vascular lung disorders","status":"public","version":"2.0","version_created":"2019-09-23T17:00:03.179221Z","relevant_disorders":["Familial and multiple pulmonary arteriovenous malformations","R186"],"stats":{"number_of_genes":15,"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":["HHT2","ALK1","HHT"],"biotype":"protein_coding","hgnc_id":"HGNC:175","gene_name":"activin A receptor like type 1","omim_gene":["601284"],"alias_name":null,"gene_symbol":"ACVRL1","hgnc_symbol":"ACVRL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52300692-52317145","ensembl_id":"ENSG00000139567"}},"GRch38":{"90":{"location":"12:51906908-51923361","ensembl_id":"ENSG00000139567"}}},"hgnc_date_symbol_changed":"1994-12-12"},"entity_type":"gene","entity_name":"ACVRL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29923633","8640225","30177223","16155196","14684682","18498373","16470787"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Telangiectasia, hereditary hemorrhagic, type 2, 600376","Bleeding disorder"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["HHT2","ALK1","HHT"],"biotype":"protein_coding","hgnc_id":"HGNC:175","gene_name":"activin A receptor like type 1","omim_gene":["601284"],"alias_name":null,"gene_symbol":"ACVRL1","hgnc_symbol":"ACVRL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52300692-52317145","ensembl_id":"ENSG00000139567"}},"GRch38":{"90":{"location":"12:51906908-51923361","ensembl_id":"ENSG00000139567"}}},"hgnc_date_symbol_changed":"1994-12-12"},"entity_type":"gene","entity_name":"ACVRL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Hereditary haemorrhagic telengiectasia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":563,"hash_id":null,"name":"Vascular skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.13","version_created":"2019-09-09T15:38:44.120161Z","relevant_disorders":[],"stats":{"number_of_genes":34,"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":["HHT2","ALK1","HHT"],"biotype":"protein_coding","hgnc_id":"HGNC:175","gene_name":"activin A receptor like type 1","omim_gene":["601284"],"alias_name":null,"gene_symbol":"ACVRL1","hgnc_symbol":"ACVRL1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:52300692-52317145","ensembl_id":"ENSG00000139567"}},"GRch38":{"90":{"location":"12:51906908-51923361","ensembl_id":"ENSG00000139567"}}},"hgnc_date_symbol_changed":"1994-12-12"},"entity_type":"gene","entity_name":"ACVRL1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["14684682","1270060","20301658","24951762","18159113","10903931","20056902","15146475","11115378","11015450","15687131","15965979","16429403","18159113","18503968","18356561","21737554","16717148","18496036","19785764","21801371","22632830","23298310","26387786","26699722"],"evidence":["NHS GMS","Expert list","Expert Review Green","UKGTN","Emory Genetics Laboratory","Eligibility statement prior genetic testing","Literature"],"phenotypes":["Telangiectasia, hereditary hemorrhagic, type 2, 600376","Heritable pulmonary arterial hypertension","HPAH"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":193,"hash_id":"58c7f8a78f62033482c42716","name":"Pulmonary arterial hypertension","disease_group":"Cardiovascular disorders","disease_sub_group":"Pulmonary heart disease","status":"public","version":"2.0","version_created":"2019-09-23T17:04:36.560383Z","relevant_disorders":["PAH","R188"],"stats":{"number_of_genes":18,"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":["HHT2","ALK1","HHT"],"biotype":"protein_coding","hgnc_id":"HGNC:175","gene_name":"activin A receptor like type 1","omim_gene":["601284"],"alias_name":null,"gene_symbol":"ACVRL1","hgnc_symbol":"ACVRL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52300692-52317145","ensembl_id":"ENSG00000139567"}},"GRch38":{"90":{"location":"12:51906908-51923361","ensembl_id":"ENSG00000139567"}}},"hgnc_date_symbol_changed":"1994-12-12"},"entity_type":"gene","entity_name":"ACVRL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16752392","25970827","30251589"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["600376 Telangiectasia, hereditary hemorrhagic, type 2"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["HHT2","ALK1","HHT"],"biotype":"protein_coding","hgnc_id":"HGNC:175","gene_name":"activin A receptor like type 1","omim_gene":["601284"],"alias_name":null,"gene_symbol":"ACVRL1","hgnc_symbol":"ACVRL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52300692-52317145","ensembl_id":"ENSG00000139567"}},"GRch38":{"90":{"location":"12:51906908-51923361","ensembl_id":"ENSG00000139567"}}},"hgnc_date_symbol_changed":"1994-12-12"},"entity_type":"gene","entity_name":"ACVRL1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE Additional Gene List"],"phenotypes":["Telangiectasia, hereditary hemorrhagic, type 2 600376"],"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."}]}}]}