{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MGC4607","OSM"],"biotype":"protein_coding","hgnc_id":"HGNC:21708","gene_name":"CCM2 scaffolding protein","omim_gene":["607929"],"alias_name":["malcavernin","osmosensing scaffold for MEKK3"],"gene_symbol":"CCM2","hgnc_symbol":"CCM2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:45039074-45116068","ensembl_id":"ENSG00000136280"}},"GRch38":{"90":{"location":"7:44999475-45076469","ensembl_id":"ENSG00000136280"}}},"hgnc_date_symbol_changed":"2004-02-18"},"entity_type":"gene","entity_name":"CCM2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20301470","14624391"],"evidence":["Expert Review Green","UKGTN","Emory Genetics Laboratory"],"phenotypes":["Cerebral Cavernous Malformation","Cerebral cavernous malformations 2","Cerebral Cavernous Malformations","Capillary malformation-arteriovenous malformation 608354"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":147,"hash_id":"5819a24f8f6203341de99c89","name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Cerebrovascular disorders","status":"public","version":"1.47","version_created":"2019-09-13T13:47:21.970257Z","relevant_disorders":["Cerebrovascular disorders","Vein of Galen malformation","Cerebral arteriovenous malformations","Moyamoya disease"],"stats":{"number_of_genes":95,"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."}]}}]}