{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CP94","CP115","LIFL-H","filensin"],"biotype":"protein_coding","hgnc_id":"HGNC:1040","gene_name":"beaded filament structural protein 1","omim_gene":["603307"],"alias_name":null,"gene_symbol":"BFSP1","hgnc_symbol":"BFSP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"20:17474550-17549865","ensembl_id":"ENSG00000125864"}},"GRch38":{"90":{"location":"20:17493905-17569220","ensembl_id":"ENSG00000125864"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"BFSP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Wang et al (2013) Mol Vis 19:2590-2595","Ramachandran et al (2007) Hum Genet 121(3-4):475-82","Alizadeh et al (2003) Invest Ophthalmol Vis Sci 43:3722-7"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Cataract 33, 611391"],"mode_of_inheritance":"BOTH monoallelic and biallelic, 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":["CP94","CP115","LIFL-H","filensin"],"biotype":"protein_coding","hgnc_id":"HGNC:1040","gene_name":"beaded filament structural protein 1","omim_gene":["603307"],"alias_name":null,"gene_symbol":"BFSP1","hgnc_symbol":"BFSP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:17474550-17549865","ensembl_id":"ENSG00000125864"}},"GRch38":{"90":{"location":"20:17493905-17569220","ensembl_id":"ENSG00000125864"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"BFSP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS"],"phenotypes":["Cataract 33, 611391"],"mode_of_inheritance":"BOTH monoallelic and 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)"}]}}]}