{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["ActR-IIB"],"biotype":"protein_coding","hgnc_id":"HGNC:174","gene_name":"activin A receptor type 2B","omim_gene":["602730"],"alias_name":null,"gene_symbol":"ACVR2B","hgnc_symbol":"ACVR2B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:38495342-38534633","ensembl_id":"ENSG00000114739"}},"GRch38":{"90":{"location":"3:38453851-38493142","ensembl_id":"ENSG00000114739"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"ACVR2B","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["Ciliopathies"],"mode_of_inheritance":"","tags":[],"panel":{"id":122,"hash_id":"554a0ac9bb5a167e4ccd1ec2","name":"Thoracic dystrophies","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.7","version_created":"2019-01-15T15:21:46.685111Z","relevant_disorders":[],"stats":{"number_of_genes":133,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["ActR-IIB"],"biotype":"protein_coding","hgnc_id":"HGNC:174","gene_name":"activin A receptor type 2B","omim_gene":["602730"],"alias_name":null,"gene_symbol":"ACVR2B","hgnc_symbol":"ACVR2B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:38495342-38534633","ensembl_id":"ENSG00000114739"}},"GRch38":{"90":{"location":"3:38453851-38493142","ensembl_id":"ENSG00000114739"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"ACVR2B","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["9916847"],"evidence":["Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Literature","UKGTN"],"phenotypes":["Heterotaxy syndrome","Heterotaxy, visceral, 4, autosomal, 613751","Visceral Heterotaxy","Heterotaxy, Visceral, 4, Autosomal"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":212,"hash_id":"583c128f8f62036f70db8d29","name":"Familial non syndromic congenital heart disease","disease_group":"Cardiovascular disorders","disease_sub_group":"Congenital heart disease","status":"public","version":"1.49","version_created":"2019-08-07T15:17:24.060112Z","relevant_disorders":["Fallots tetralogy","Hypoplastic Left Heart Syndrome","Left Ventricular Outflow Tract obstruction disorders","Pulmonary atresia","Transposition of the great vessels","Familial non-syndromic congenital heart disease","Familial congenital heart disease","Congenital heart disease","Syndromic congenital heart disease","Isomerism and laterality disorders"],"stats":{"number_of_genes":47,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["ActR-IIB"],"biotype":"protein_coding","hgnc_id":"HGNC:174","gene_name":"activin A receptor type 2B","omim_gene":["602730"],"alias_name":null,"gene_symbol":"ACVR2B","hgnc_symbol":"ACVR2B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:38495342-38534633","ensembl_id":"ENSG00000114739"}},"GRch38":{"90":{"location":"3:38453851-38493142","ensembl_id":"ENSG00000114739"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"ACVR2B","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["ciliopathies"],"mode_of_inheritance":"","tags":[],"panel":{"id":178,"hash_id":"55a76be222c1fc6710839b9f","name":"Primary ciliary disorders","disease_group":"Ciliopathies","disease_sub_group":"Respiratory ciliopathies","status":"public","version":"1.19","version_created":"2019-06-20T15:15:15.426107Z","relevant_disorders":["Primary ciliary dyskinesia"],"stats":{"number_of_genes":140,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["ActR-IIB"],"biotype":"protein_coding","hgnc_id":"HGNC:174","gene_name":"activin A receptor type 2B","omim_gene":["602730"],"alias_name":null,"gene_symbol":"ACVR2B","hgnc_symbol":"ACVR2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:38495342-38534633","ensembl_id":"ENSG00000114739"}},"GRch38":{"90":{"location":"3:38453851-38493142","ensembl_id":"ENSG00000114739"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"ACVR2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9916847"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":549,"hash_id":null,"name":"Laterality disorders and isomerism","disease_group":"","disease_sub_group":"","status":"public","version":"0.51","version_created":"2019-09-27T19:31:06.459183Z","relevant_disorders":["R139"],"stats":{"number_of_genes":56,"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":["ActR-IIB"],"biotype":"protein_coding","hgnc_id":"HGNC:174","gene_name":"activin A receptor type 2B","omim_gene":["602730"],"alias_name":null,"gene_symbol":"ACVR2B","hgnc_symbol":"ACVR2B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:38495342-38534633","ensembl_id":"ENSG00000114739"}},"GRch38":{"90":{"location":"3:38453851-38493142","ensembl_id":"ENSG00000114739"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"ACVR2B","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Emory Genetics Laboratory"],"phenotypes":["Heterotaxy, visceral, 4, autosomal\t613751"],"mode_of_inheritance":"Unknown","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":["ActR-IIB"],"biotype":"protein_coding","hgnc_id":"HGNC:174","gene_name":"activin A receptor type 2B","omim_gene":["602730"],"alias_name":null,"gene_symbol":"ACVR2B","hgnc_symbol":"ACVR2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:38495342-38534633","ensembl_id":"ENSG00000114739"}},"GRch38":{"90":{"location":"3:38453851-38493142","ensembl_id":"ENSG00000114739"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"ACVR2B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["HETEROTAXY SYNDROME 207574"],"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":["ActR-IIB"],"biotype":"protein_coding","hgnc_id":"HGNC:174","gene_name":"activin A receptor type 2B","omim_gene":["602730"],"alias_name":null,"gene_symbol":"ACVR2B","hgnc_symbol":"ACVR2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:38495342-38534633","ensembl_id":"ENSG00000114739"}},"GRch38":{"90":{"location":"3:38453851-38493142","ensembl_id":"ENSG00000114739"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"ACVR2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9916847"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":479,"hash_id":null,"name":"Paediatric disorders - additional genes","disease_group":"","disease_sub_group":"","status":"public","version":"0.30","version_created":"2019-08-15T10:59:19.519426Z","relevant_disorders":[],"stats":{"number_of_genes":9,"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":["ActR-IIB"],"biotype":"protein_coding","hgnc_id":"HGNC:174","gene_name":"activin A receptor type 2B","omim_gene":["602730"],"alias_name":null,"gene_symbol":"ACVR2B","hgnc_symbol":"ACVR2B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:38495342-38534633","ensembl_id":"ENSG00000114739"}},"GRch38":{"90":{"location":"3:38453851-38493142","ensembl_id":"ENSG00000114739"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"ACVR2B","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Emory Genetics Laboratory","Expert list"],"phenotypes":["ciliopathies"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":150,"hash_id":"568ea01e22c1fc1c78b6715d","name":"Rare multisystem ciliopathy disorders","disease_group":"Ciliopathies","disease_sub_group":"Congenital malformations caused by ciliopathies","status":"public","version":"1.121","version_created":"2019-09-26T13:15:06.802957Z","relevant_disorders":["Joubert syndrome","Bardet-Biedl Syndrome"],"stats":{"number_of_genes":201,"number_of_strs":0,"number_of_regions":2},"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"}]}}]}