{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8622","gene_name":"paired box 8","omim_gene":["167415"],"alias_name":null,"gene_symbol":"PAX8","hgnc_symbol":"PAX8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:113973574-114036527","ensembl_id":"ENSG00000125618"}},"GRch38":{"90":{"location":"2:113215997-113278950","ensembl_id":"ENSG00000125618"}}},"hgnc_date_symbol_changed":"1998-11-16"},"entity_type":"gene","entity_name":"PAX8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","PAGE DD-Gene2Phenotype"],"phenotypes":["CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2"],"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."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8622","gene_name":"paired box 8","omim_gene":["167415"],"alias_name":null,"gene_symbol":"PAX8","hgnc_symbol":"PAX8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:113973574-114036527","ensembl_id":"ENSG00000125618"}},"GRch38":{"90":{"location":"2:113215997-113278950","ensembl_id":"ENSG00000125618"}}},"hgnc_date_symbol_changed":"1998-11-16"},"entity_type":"gene","entity_name":"PAX8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15356023","15718293","11502839","9590296","11232006"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 218700"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8622","gene_name":"paired box 8","omim_gene":["167415"],"alias_name":null,"gene_symbol":"PAX8","hgnc_symbol":"PAX8","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:113973574-114036527","ensembl_id":"ENSG00000125618"}},"GRch38":{"90":{"location":"2:113215997-113278950","ensembl_id":"ENSG00000125618"}}},"hgnc_date_symbol_changed":"1998-11-16"},"entity_type":"gene","entity_name":"PAX8","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700","CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 (CHNG2)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8622","gene_name":"paired box 8","omim_gene":["167415"],"alias_name":null,"gene_symbol":"PAX8","hgnc_symbol":"PAX8","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:113973574-114036527","ensembl_id":"ENSG00000125618"}},"GRch38":{"90":{"location":"2:113215997-113278950","ensembl_id":"ENSG00000125618"}}},"hgnc_date_symbol_changed":"1998-11-16"},"entity_type":"gene","entity_name":"PAX8","confidence_level":"3","penetrance":"Incomplete","mode_of_pathogenicity":"","publications":["PMID:23647375","PMID:9590296"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Congenital hypothyroidism","Hypothyroidism, Congenital, Nongoitrous, 2, 218700","Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700","urogenital tract malformations","thyroid hypoplasia","thyroid dysgenesis","eutopic gland-in-situ"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"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."}]}}]}
