{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA0253","APH2"],"biotype":"protein_coding","hgnc_id":"HGNC:17091","gene_name":"nicastrin","omim_gene":["605254"],"alias_name":null,"gene_symbol":"NCSTN","hgnc_symbol":"NCSTN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:160313062-160328742","ensembl_id":"ENSG00000162736"}},"GRch38":{"90":{"location":"1:160343272-160358952","ensembl_id":"ENSG00000162736"}}},"hgnc_date_symbol_changed":"2005-02-08"},"entity_type":"gene","entity_name":"NCSTN","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26663538","26463457","26224166","22834455","22759192","20929727","22622421"],"evidence":["Expert Review Green","Literature","Radboud University Medical Center, Nijmegen"],"phenotypes":["Acne inversa, familial, 1, 142690","hidradenitis suppurativa"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":23,"hash_id":"5885e9db8f620309044f8a0a","name":"Familial hidradenitis suppurativa","disease_group":"Dermatological disorders","disease_sub_group":"Skin adnexa disorders","status":"public","version":"1.1","version_created":"2017-11-05T02:37:19.861127Z","relevant_disorders":[],"stats":{"number_of_genes":11,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA0253","APH2"],"biotype":"protein_coding","hgnc_id":"HGNC:17091","gene_name":"nicastrin","omim_gene":["605254"],"alias_name":null,"gene_symbol":"NCSTN","hgnc_symbol":"NCSTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160313062-160328742","ensembl_id":"ENSG00000162736"}},"GRch38":{"90":{"location":"1:160343272-160358952","ensembl_id":"ENSG00000162736"}}},"hgnc_date_symbol_changed":"2005-02-08"},"entity_type":"gene","entity_name":"NCSTN","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["20929727","21412258"],"evidence":["Expert Review Amber","IUIS Classification February 2018"],"phenotypes":["Hidradenitis suppurativa with acne, 142690","Defects in Intrinsic and Innate Immunity","familial hydradenitis suppurativa"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":398,"hash_id":null,"name":"Primary immunodeficiency","disease_group":"","disease_sub_group":"","status":"public","version":"1.132","version_created":"2019-09-27T14:37:49.085568Z","relevant_disorders":["Primary immunodeficiency disorders","A- or hypo-gammaglobulinaemia","Congenital neutropaenia","Agranulocytosis","Combined B and T cell defect","Inherited complement deficiency","SCID","Primary immune disorder","Primary immunodeficiency","A-gammaglobulinaemia","Agammaglobulinaemia","hypo-gammaglobulinaemia","hypogammaglobulinemia","immune deficiency syndromes","Severe combined immunodeficiency","Congenital neutopenia","Familial haemophagocytic lymphohistiocytic disorders","Familial hemophagocytic lymphohistiocytic disorders","PID","Sepsis","Disseminated 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."}]}}]}