{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":["DKFZp761P0710","KIAA0686","FEB4","VLGR1"],"biotype":"protein_coding","hgnc_id":"HGNC:17416","gene_name":"adhesion G protein-coupled receptor V1","omim_gene":["602851"],"alias_name":null,"gene_symbol":"ADGRV1","hgnc_symbol":"ADGRV1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:89825161-90460038","ensembl_id":"ENSG00000164199"}},"GRch38":{"90":{"location":"5:90529344-91164437","ensembl_id":"ENSG00000164199"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRV1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["14740321","26432996","25743181","25572244","14740321","25743181","25572244","23035094","25406310","17295842","16775142"],"evidence":["ClinGen","Expert Review Green","Other"],"phenotypes":["Usher Syndrome, Type 2C","Orphanet:231178","OMIM:605472"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":64,"hash_id":"58ee38f88f62033bda307d54","name":"ClinGen Gene Validity Curations","disease_group":"","disease_sub_group":"","status":"public","version":"0.64","version_created":"2019-06-20T15:10:34.572009Z","relevant_disorders":[],"stats":{"number_of_genes":47,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"ClinGen Curated genes","slug":"clingen-curated-genes","description":"ClinGen Curated genes"}]}},{"gene_data":{"alias":["DKFZp761P0710","KIAA0686","FEB4","VLGR1"],"biotype":"protein_coding","hgnc_id":"HGNC:17416","gene_name":"adhesion G protein-coupled receptor V1","omim_gene":["602851"],"alias_name":null,"gene_symbol":"ADGRV1","hgnc_symbol":"ADGRV1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:89825161-90460038","ensembl_id":"ENSG00000164199"}},"GRch38":{"90":{"location":"5:90529344-91164437","ensembl_id":"ENSG00000164199"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRV1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["Eye Disorders"],"mode_of_inheritance":"","tags":[],"panel":{"id":249,"hash_id":"55507b25bb5a161bf644a3b2","name":"Glaucoma (developmental)","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.5","version_created":"2019-06-20T15:15:07.662717Z","relevant_disorders":[],"stats":{"number_of_genes":224,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["DKFZp761P0710","KIAA0686","FEB4","VLGR1"],"biotype":"protein_coding","hgnc_id":"HGNC:17416","gene_name":"adhesion G protein-coupled receptor V1","omim_gene":["602851"],"alias_name":null,"gene_symbol":"ADGRV1","hgnc_symbol":"ADGRV1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:89825161-90460038","ensembl_id":"ENSG00000164199"}},"GRch38":{"90":{"location":"5:90529344-91164437","ensembl_id":"ENSG00000164199"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRV1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":[],"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":["DKFZp761P0710","KIAA0686","FEB4","VLGR1"],"biotype":"protein_coding","hgnc_id":"HGNC:17416","gene_name":"adhesion G protein-coupled receptor V1","omim_gene":["602851"],"alias_name":null,"gene_symbol":"ADGRV1","hgnc_symbol":"ADGRV1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:89825161-90460038","ensembl_id":"ENSG00000164199"}},"GRch38":{"90":{"location":"5:90529344-91164437","ensembl_id":"ENSG00000164199"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRV1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["ciliopathies"],"mode_of_inheritance":"Unknown","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":["DKFZp761P0710","KIAA0686","FEB4","VLGR1"],"biotype":"protein_coding","hgnc_id":"HGNC:17416","gene_name":"adhesion G protein-coupled receptor V1","omim_gene":["602851"],"alias_name":null,"gene_symbol":"ADGRV1","hgnc_symbol":"ADGRV1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:89825161-90460038","ensembl_id":"ENSG00000164199"}},"GRch38":{"90":{"location":"5:90529344-91164437","ensembl_id":"ENSG00000164199"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRV1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"","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":["DKFZp761P0710","KIAA0686","FEB4","VLGR1"],"biotype":"protein_coding","hgnc_id":"HGNC:17416","gene_name":"adhesion G protein-coupled receptor V1","omim_gene":["602851"],"alias_name":null,"gene_symbol":"ADGRV1","hgnc_symbol":"ADGRV1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:89825161-90460038","ensembl_id":"ENSG00000164199"}},"GRch38":{"90":{"location":"5:90529344-91164437","ensembl_id":"ENSG00000164199"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRV1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID:10234513","10976914","11545713","11606593","12095917","12402266","14740321","15820310","18854872","19357116","19357117","20440071","22147658","9598305","9734811"],"evidence":["Expert Review Green","Expert","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN"],"phenotypes":["hearing loss","Febrile seizures, familial, 4, 604352","Syndromic and Non Syndromic Hearing Loss","Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472","Usher syndrome, type 2C, 605472"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":126,"hash_id":"558ac48fbb5a16630dcfeaad","name":"Hearing loss","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"2.2","version_created":"2019-09-03T14:01:56.987667Z","relevant_disorders":["Congenital hearing impairment","Autosomal dominant deafness","Congenital hearing impairment (profound/severe)","R67"],"stats":{"number_of_genes":358,"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."},{"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."},{"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":["DKFZp761P0710","KIAA0686","FEB4","VLGR1"],"biotype":"protein_coding","hgnc_id":"HGNC:17416","gene_name":"adhesion G protein-coupled receptor V1","omim_gene":["602851"],"alias_name":null,"gene_symbol":"ADGRV1","hgnc_symbol":"ADGRV1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:89825161-90460038","ensembl_id":"ENSG00000164199"}},"GRch38":{"90":{"location":"5:90529344-91164437","ensembl_id":"ENSG00000164199"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRV1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Wessex and West Midlands GLH","NHS GMS","NIHRBR-RD Consortium SPEED_v3.0_20170404","Radboud University Medical Center, Nijmegen","Expert Review Red"],"phenotypes":["Febrile seizures, familial, 4, 604352","Usher syndrome, type 2C, 605472","Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472"],"mode_of_inheritance":"","tags":[],"panel":{"id":402,"hash_id":null,"name":"Genetic epilepsy syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Inherited Epilepsy Syndromes","status":"public","version":"1.363","version_created":"2019-10-08T10:06:11.607307Z","relevant_disorders":["Epilepsy Plus","Epilepsy plus other features","Genetic Epilepsy Syndromes","Epileptic encephalopathy","Familial Focal Epilepsies","Familial Genetic Generalised Epilepsies","Genetic Epilepsies with Febrile Seizures Plus (GEFS+)","Genetic Epilepsies with Febrile Seizures Plus"],"stats":{"number_of_genes":614,"number_of_strs":2,"number_of_regions":13},"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["DKFZp761P0710","KIAA0686","FEB4","VLGR1"],"biotype":"protein_coding","hgnc_id":"HGNC:17416","gene_name":"adhesion G protein-coupled receptor V1","omim_gene":["602851"],"alias_name":null,"gene_symbol":"ADGRV1","hgnc_symbol":"ADGRV1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:89825161-90460038","ensembl_id":"ENSG00000164199"}},"GRch38":{"90":{"location":"5:90529344-91164437","ensembl_id":"ENSG00000164199"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRV1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Febrile seizures, familial, 4, 604352","Usher syndrome, type","2C, 605472","Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472"],"mode_of_inheritance":"BOTH monoallelic and 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"}]}},{"gene_data":{"alias":["DKFZp761P0710","KIAA0686","FEB4","VLGR1"],"biotype":"protein_coding","hgnc_id":"HGNC:17416","gene_name":"adhesion G protein-coupled receptor V1","omim_gene":["602851"],"alias_name":null,"gene_symbol":"ADGRV1","hgnc_symbol":"ADGRV1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:89825161-90460038","ensembl_id":"ENSG00000164199"}},"GRch38":{"90":{"location":"5:90529344-91164437","ensembl_id":"ENSG00000164199"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRV1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Usher syndrome,  type 2C","Eye Disorders"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":307,"hash_id":"56e0238b22c1fc09c97a6e46","name":"Retinal disorders","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"1.199","version_created":"2019-10-08T09:22:18.436205Z","relevant_disorders":["Posterior segment abnormalities","Cone Dysfunction Syndrome","Developmental macular and foveal dystrophy","Inherited macular dystrophy","Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy","Rod Dysfunction Syndrome","Rod-cone dystrophy","Familial exudative vitreoretinopathy","Familial exudative retinopathy","R32","R33","R34","R35"],"stats":{"number_of_genes":320,"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":["DKFZp761P0710","KIAA0686","FEB4","VLGR1"],"biotype":"protein_coding","hgnc_id":"HGNC:17416","gene_name":"adhesion G protein-coupled receptor V1","omim_gene":["602851"],"alias_name":null,"gene_symbol":"ADGRV1","hgnc_symbol":"ADGRV1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:89825161-90460038","ensembl_id":"ENSG00000164199"}},"GRch38":{"90":{"location":"5:90529344-91164437","ensembl_id":"ENSG00000164199"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRV1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Usher syndrome, type 2C, 605472","Eye Disorders"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":509,"hash_id":null,"name":"Structural eye disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.93","version_created":"2019-10-09T13:18:12.923145Z","relevant_disorders":["R36"],"stats":{"number_of_genes":456,"number_of_strs":0,"number_of_regions":2},"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":["DKFZp761P0710","KIAA0686","FEB4","VLGR1"],"biotype":"protein_coding","hgnc_id":"HGNC:17416","gene_name":"adhesion G protein-coupled receptor V1","omim_gene":["602851"],"alias_name":null,"gene_symbol":"ADGRV1","hgnc_symbol":"ADGRV1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:89825161-90460038","ensembl_id":"ENSG00000164199"}},"GRch38":{"90":{"location":"5:90529344-91164437","ensembl_id":"ENSG00000164199"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRV1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Emory Genetics Laboratory"],"phenotypes":["Ciliopathies"],"mode_of_inheritance":"","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"}]}}]}