{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:20580","gene_name":"cytochrome P450 family 2 subfamily R member 1","omim_gene":["608713"],"alias_name":null,"gene_symbol":"CYP2R1","hgnc_symbol":"CYP2R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:14899553-14913798","ensembl_id":"ENSG00000186104"}},"GRch38":{"90":{"location":"11:14877440-14892252","ensembl_id":"ENSG00000186104"}}},"hgnc_date_symbol_changed":"2004-03-11"},"entity_type":"gene","entity_name":"CYP2R1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22855339","15128933","28548312","25942481"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Rickets due to defect in vitamin D 25-hydroxylation  (600081)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":482,"hash_id":null,"name":"Hypophosphataemia or rickets","disease_group":"","disease_sub_group":"","status":"public","version":"2.1","version_created":"2019-07-31T12:01:20.025463Z","relevant_disorders":["R154"],"stats":{"number_of_genes":14,"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."},{"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."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:20580","gene_name":"cytochrome P450 family 2 subfamily R member 1","omim_gene":["608713"],"alias_name":null,"gene_symbol":"CYP2R1","hgnc_symbol":"CYP2R1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:14899553-14913798","ensembl_id":"ENSG00000186104"}},"GRch38":{"90":{"location":"11:14877440-14892252","ensembl_id":"ENSG00000186104"}}},"hgnc_date_symbol_changed":"2004-03-11"},"entity_type":"gene","entity_name":"CYP2R1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27716192"],"evidence":["NHS GMS","Expert Review Amber","Literature"],"phenotypes":["Vogt-Koyanagi-Harada disease","Rickets due to defect in vitamin D 25-hydroxylation\t600081"],"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."}]}}]}