{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2409","gene_name":"crystallin gamma B","omim_gene":["123670"],"alias_name":null,"gene_symbol":"CRYGB","hgnc_symbol":"CRYGB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:209007297-209010892","ensembl_id":"ENSG00000182187"}},"GRch38":{"90":{"location":"2:208142573-208146168","ensembl_id":"ENSG00000182187"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CRYGB","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Alfadhli et al (2012) Mol. Vis. 18: 2931-2936","Mouse mutation: Li et al (2008) Invest. Ophthal. Vis. Sci. 49: 304-309","PMID: 21941057 - a SNP associated with susceptibility to cataract."],"evidence":["Expert Review Red","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Cataract 39, multiple types, autosomal dominant, 615188"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":230,"hash_id":"553f979fbb5a1616e5ed45f8","name":"Cataracts","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"2.0","version_created":"2019-10-02T14:52:22.701027Z","relevant_disorders":["R31"],"stats":{"number_of_genes":172,"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."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2409","gene_name":"crystallin gamma B","omim_gene":["123670"],"alias_name":null,"gene_symbol":"CRYGB","hgnc_symbol":"CRYGB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:209007297-209010892","ensembl_id":"ENSG00000182187"}},"GRch38":{"90":{"location":"2:208142573-208146168","ensembl_id":"ENSG00000182187"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CRYGB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS"],"phenotypes":["Cataract 39, multiple types, autosomal dominant, 615188"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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)"}]}}]}
