{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CIP98","USH2D","PDZD7B"],"biotype":"protein_coding","hgnc_id":"HGNC:16361","gene_name":"whirlin","omim_gene":["607928"],"alias_name":null,"gene_symbol":"WHRN","hgnc_symbol":"WHRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:117164360-117267730","ensembl_id":"ENSG00000095397"}},"GRch38":{"90":{"location":"9:114402080-114505450","ensembl_id":"ENSG00000095397"}}},"hgnc_date_symbol_changed":"2016-05-17"},"entity_type":"gene","entity_name":"WHRN","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["17171570","21738389","22147658","26338283","12833159","16434480","20502675","12833159","20502675","28254438","27117407"],"evidence":["ClinGen","Expert Review Green"],"phenotypes":["Usher syndrome type 2D"],"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":["CIP98","USH2D","PDZD7B"],"biotype":"protein_coding","hgnc_id":"HGNC:16361","gene_name":"whirlin","omim_gene":["607928"],"alias_name":null,"gene_symbol":"WHRN","hgnc_symbol":"WHRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:117164360-117267730","ensembl_id":"ENSG00000095397"}},"GRch38":{"90":{"location":"9:114402080-114505450","ensembl_id":"ENSG00000095397"}}},"hgnc_date_symbol_changed":"2016-05-17"},"entity_type":"gene","entity_name":"WHRN","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":["CIP98","USH2D","PDZD7B"],"biotype":"protein_coding","hgnc_id":"HGNC:16361","gene_name":"whirlin","omim_gene":["607928"],"alias_name":null,"gene_symbol":"WHRN","hgnc_symbol":"WHRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:117164360-117267730","ensembl_id":"ENSG00000095397"}},"GRch38":{"90":{"location":"9:114402080-114505450","ensembl_id":"ENSG00000095397"}}},"hgnc_date_symbol_changed":"2016-05-17"},"entity_type":"gene","entity_name":"WHRN","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":["CIP98","USH2D","PDZD7B"],"biotype":"protein_coding","hgnc_id":"HGNC:16361","gene_name":"whirlin","omim_gene":["607928"],"alias_name":null,"gene_symbol":"WHRN","hgnc_symbol":"WHRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:117164360-117267730","ensembl_id":"ENSG00000095397"}},"GRch38":{"90":{"location":"9:114402080-114505450","ensembl_id":"ENSG00000095397"}}},"hgnc_date_symbol_changed":"2016-05-17"},"entity_type":"gene","entity_name":"WHRN","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":["CIP98","USH2D","PDZD7B"],"biotype":"protein_coding","hgnc_id":"HGNC:16361","gene_name":"whirlin","omim_gene":["607928"],"alias_name":null,"gene_symbol":"WHRN","hgnc_symbol":"WHRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:117164360-117267730","ensembl_id":"ENSG00000095397"}},"GRch38":{"90":{"location":"9:114402080-114505450","ensembl_id":"ENSG00000095397"}}},"hgnc_date_symbol_changed":"2016-05-17"},"entity_type":"gene","entity_name":"WHRN","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":["CIP98","USH2D","PDZD7B"],"biotype":"protein_coding","hgnc_id":"HGNC:16361","gene_name":"whirlin","omim_gene":["607928"],"alias_name":null,"gene_symbol":"WHRN","hgnc_symbol":"WHRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:117164360-117267730","ensembl_id":"ENSG00000095397"}},"GRch38":{"90":{"location":"9:114402080-114505450","ensembl_id":"ENSG00000095397"}}},"hgnc_date_symbol_changed":"2016-05-17"},"entity_type":"gene","entity_name":"WHRN","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 10819331","11973626","12641734","12833159","15590698","15590699","15654330","15841483","16434480","16829577","17171570","17906286","22147658"],"evidence":["Expert Review Green","Expert","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","UKGTN"],"phenotypes":["#607084:Deafness, autosomal recessive 31","#611383:Usher syndrome, type 2D","hearing loss","Nonsyndromic Hearing Loss, Recessive"],"mode_of_inheritance":"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":["CIP98","USH2D","PDZD7B"],"biotype":"protein_coding","hgnc_id":"HGNC:16361","gene_name":"whirlin","omim_gene":["607928"],"alias_name":null,"gene_symbol":"WHRN","hgnc_symbol":"WHRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:117164360-117267730","ensembl_id":"ENSG00000095397"}},"GRch38":{"90":{"location":"9:114402080-114505450","ensembl_id":"ENSG00000095397"}}},"hgnc_date_symbol_changed":"2016-05-17"},"entity_type":"gene","entity_name":"WHRN","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["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":["CIP98","USH2D","PDZD7B"],"biotype":"protein_coding","hgnc_id":"HGNC:16361","gene_name":"whirlin","omim_gene":["607928"],"alias_name":null,"gene_symbol":"WHRN","hgnc_symbol":"WHRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:117164360-117267730","ensembl_id":"ENSG00000095397"}},"GRch38":{"90":{"location":"9:114402080-114505450","ensembl_id":"ENSG00000095397"}}},"hgnc_date_symbol_changed":"2016-05-17"},"entity_type":"gene","entity_name":"WHRN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Usher syndrome, type 2D, 611383","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":["CIP98","USH2D","PDZD7B"],"biotype":"protein_coding","hgnc_id":"HGNC:16361","gene_name":"whirlin","omim_gene":["607928"],"alias_name":null,"gene_symbol":"WHRN","hgnc_symbol":"WHRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:117164360-117267730","ensembl_id":"ENSG00000095397"}},"GRch38":{"90":{"location":"9:114402080-114505450","ensembl_id":"ENSG00000095397"}}},"hgnc_date_symbol_changed":"2016-05-17"},"entity_type":"gene","entity_name":"WHRN","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"}]}}]}