{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["SREBP2","bHLHd2"],"biotype":"protein_coding","hgnc_id":"HGNC:11290","gene_name":"sterol regulatory element binding transcription factor 2","omim_gene":["600481"],"alias_name":null,"gene_symbol":"SREBF2","hgnc_symbol":"SREBF2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:42229109-42303312","ensembl_id":"ENSG00000198911"}},"GRch38":{"90":{"location":"22:41833079-41907308","ensembl_id":"ENSG00000198911"}}},"hgnc_date_symbol_changed":"1994-11-23"},"entity_type":"gene","entity_name":"SREBF2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["11950857","doi:10.​1007/​s12265-016-9673-5"],"evidence":["Literature"],"phenotypes":["Familial Hypercholesterolaemia"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":6,"hash_id":"561518be22c1fc212900fb84","name":"Familial hypercholesterolaemia","disease_group":"Cardiovascular disorders","disease_sub_group":"Arteriopathies","status":"public","version":"1.26","version_created":"2019-10-07T15:50:14.542064Z","relevant_disorders":["Familial Hypercholesterolaemia","Familial Hypercholesterolemia"],"stats":{"number_of_genes":43,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["SREBP2","bHLHd2"],"biotype":"protein_coding","hgnc_id":"HGNC:11290","gene_name":"sterol regulatory element binding transcription factor 2","omim_gene":["600481"],"alias_name":null,"gene_symbol":"SREBF2","hgnc_symbol":"SREBF2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:42229109-42303312","ensembl_id":"ENSG00000198911"}},"GRch38":{"90":{"location":"22:41833079-41907308","ensembl_id":"ENSG00000198911"}}},"hgnc_date_symbol_changed":"1994-11-23"},"entity_type":"gene","entity_name":"SREBF2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","UKGTN"],"phenotypes":[],"mode_of_inheritance":"","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":["SREBP2","bHLHd2"],"biotype":"protein_coding","hgnc_id":"HGNC:11290","gene_name":"sterol regulatory element binding transcription factor 2","omim_gene":["600481"],"alias_name":null,"gene_symbol":"SREBF2","hgnc_symbol":"SREBF2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:42229109-42303312","ensembl_id":"ENSG00000198911"}},"GRch38":{"90":{"location":"22:41833079-41907308","ensembl_id":"ENSG00000198911"}}},"hgnc_date_symbol_changed":"1994-11-23"},"entity_type":"gene","entity_name":"SREBF2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26350204"],"evidence":["Expert Review Red"],"phenotypes":[],"mode_of_inheritance":"","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"}]}}]}
