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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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8522","gene_name":"orthodenticle homeobox 2","omim_gene":["600037"],"alias_name":null,"gene_symbol":"OTX2","hgnc_symbol":"OTX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:57267425-57277197","ensembl_id":"ENSG00000165588"}},"GRch38":{"90":{"location":"14:56799905-56810479","ensembl_id":"ENSG00000165588"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"OTX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["15846561","24859618","18781617"],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["severe, bilateral cases","OTX2-Related Syndromic Microphthalmia","Microphthalmia, syndromic 5, 610125"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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)"}]}}]}