{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["gfg-1","gfg","FGF2AS","FGF-AS"],"biotype":"protein_coding","hgnc_id":"HGNC:8053","gene_name":"nudix hydrolase 6","omim_gene":["606261"],"alias_name":null,"gene_symbol":"NUDT6","hgnc_symbol":"NUDT6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:123809852-123844123","ensembl_id":"ENSG00000170917"}},"GRch38":{"90":{"location":"4:122888697-122922968","ensembl_id":"ENSG00000170917"}}},"hgnc_date_symbol_changed":"1999-09-03"},"entity_type":"gene","entity_name":"NUDT6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["Essawi et al A homozygous missense variant in NUDT6 is responsible for an autosomal recessive form of osteogenesis imperfecta."],"evidence":["Expert Review Amber","NHS GMS","Expert list"],"phenotypes":["recurrent fractures, accompanied with other skeletal manifestations including short-limb dwarfism, mild frontal bossing, bowing of legs and scoliosis."],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":196,"hash_id":"55896ed2bb5a1671a7fef4f9","name":"Osteogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-09-04T11:35:54.595856Z","relevant_disorders":["Osteogenesis Imperfecta","R102"],"stats":{"number_of_genes":184,"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","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)"},{"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."}]}}]}