{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["h-vps45","H1"],"biotype":"protein_coding","hgnc_id":"HGNC:14579","gene_name":"vacuolar protein sorting 45 homolog","omim_gene":["610035"],"alias_name":null,"gene_symbol":"VPS45","hgnc_symbol":"VPS45","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:150039369-150117505","ensembl_id":"ENSG00000136631"}},"GRch38":{"90":{"location":"1:150067293-150145327","ensembl_id":"ENSG00000136631"}}},"hgnc_date_symbol_changed":"2006-12-19"},"entity_type":"gene","entity_name":"VPS45","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23738510","23599270"],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Victorian Clinical Genetics Services","Expert Review Green","GRID V2.0","Congenital neutropaenia v1.22"],"phenotypes":["Neutropenia, severe congenital, 5, autosomal recessive, 615285","Neutropenia, severe congenital 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non-tuberculous mycobacterial infection","R15"],"stats":{"number_of_genes":395,"number_of_strs":0,"number_of_regions":2},"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."}]}},{"gene_data":{"alias":["h-vps45","H1"],"biotype":"protein_coding","hgnc_id":"HGNC:14579","gene_name":"vacuolar protein sorting 45 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pseudoautosomal","tags":[],"panel":{"id":519,"hash_id":null,"name":"Cytopenia - NOT Fanconi anaemia","disease_group":"","disease_sub_group":"","status":"public","version":"0.120","version_created":"2019-09-23T10:29:43.892929Z","relevant_disorders":["R91","R258"],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"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)"}]}}]}
