{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["PDS"],"biotype":"protein_coding","hgnc_id":"HGNC:8818","gene_name":"solute carrier family 26 member 4","omim_gene":["605646"],"alias_name":["pendrin"],"gene_symbol":"SLC26A4","hgnc_symbol":"SLC26A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:107301080-107358254","ensembl_id":"ENSG00000091137"}},"GRch38":{"90":{"location":"7:107660635-107717809","ensembl_id":"ENSG00000091137"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"SLC26A4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28787010"],"evidence":["Literature"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":394,"hash_id":null,"name":"Familial Meniere Disease","disease_group":"Hearing and ear disorders","disease_sub_group":"Other hearing and ear disorders","status":"public","version":"1.1","version_created":"2018-01-17T16:26:29.432517Z","relevant_disorders":[],"stats":{"number_of_genes":130,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["PDS"],"biotype":"protein_coding","hgnc_id":"HGNC:8818","gene_name":"solute carrier family 26 member 4","omim_gene":["605646"],"alias_name":["pendrin"],"gene_symbol":"SLC26A4","hgnc_symbol":"SLC26A4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:107301080-107358254","ensembl_id":"ENSG00000091137"}},"GRch38":{"90":{"location":"7:107660635-107717809","ensembl_id":"ENSG00000091137"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"SLC26A4","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Eligibility statement prior genetic testing"],"phenotypes":["Deafness,autosomal recessive 4,with enlarged vestibular aqueduct,600791"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":251,"hash_id":"57f4dbd18f62036d37cfe4e4","name":"Deafness and congenital structural abnormalities","disease_group":"Hearing and ear disorders","disease_sub_group":"Deafness and congenital structural abnormalities","status":"public","version":"1.17","version_created":"2019-06-20T15:10:56.166309Z","relevant_disorders":["Bilateral microtia","Ear malformations with hearing impairment","Ear malformations","Familial hemifacial microsomia"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["PDS"],"biotype":"protein_coding","hgnc_id":"HGNC:8818","gene_name":"solute carrier family 26 member 4","omim_gene":["605646"],"alias_name":["pendrin"],"gene_symbol":"SLC26A4","hgnc_symbol":"SLC26A4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:107301080-107358254","ensembl_id":"ENSG00000091137"}},"GRch38":{"90":{"location":"7:107660635-107717809","ensembl_id":"ENSG00000091137"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"SLC26A4","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID:10190331","10192399","10404839","10449762","10571950","10602116","10843192","10861298","10878664","10902795","11152663","11274445","11317356","11932316","12107249","12354788","12642503","12676893","12727986","12788906","12920581","12974744","14508505","15531480","15679828","15689455","16260629","16570074","17443271","17503324","17690912","17718863","17940114","18285825","18310264","19204907","19287372","19426954","20442411","22139968","8541853","9302427","9398842","9500541","9618166","9618167","9729124","9920104"],"evidence":["Expert Review Green","Eligibility statement prior genetic testing","Expert","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Nonsyndromic Hearing Loss, Recessive","Pendred syndrome, 274600","hearing loss","Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791","enlarged vestibular aqueducts"],"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":["PDS"],"biotype":"protein_coding","hgnc_id":"HGNC:8818","gene_name":"solute carrier family 26 member 4","omim_gene":["605646"],"alias_name":["pendrin"],"gene_symbol":"SLC26A4","hgnc_symbol":"SLC26A4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:107301080-107358254","ensembl_id":"ENSG00000091137"}},"GRch38":{"90":{"location":"7:107660635-107717809","ensembl_id":"ENSG00000091137"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"SLC26A4","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["9398842","11932316"],"evidence":["Expert Review Green","Eligibility statement prior genetic testing","Other"],"phenotypes":["Pendred syndrome, 274600 (congenital deafness and thyroid goitre)","Sensorineural deafness","enlarged vestibular aqueduct","Mondini defect","partial iodide organification defect","goitre","mild hypothyroidism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","monogenic-polygenic"],"panel":{"id":31,"hash_id":"5763f2938f620350a1996046","name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","status":"public","version":"2.0","version_created":"2019-07-31T13:52:41.584963Z","relevant_disorders":["Congenital hypothyroidism or thyroid agenesis","R145"],"stats":{"number_of_genes":34,"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":"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."}]}}]}
