{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA1915"],"biotype":"protein_coding","hgnc_id":"HGNC:29401","gene_name":"Myb like, SWIRM and MPN domains 1","omim_gene":["612176"],"alias_name":null,"gene_symbol":"MYSM1","hgnc_symbol":"MYSM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:59120411-59165764","ensembl_id":"ENSG00000162601"}},"GRch38":{"90":{"location":"1:58654739-58700092","ensembl_id":"ENSG00000162601"}}},"hgnc_date_symbol_changed":"2005-07-14"},"entity_type":"gene","entity_name":"MYSM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24288411","26220525","28115216","28446309","22184403","26474655"],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Expert Review Green","ESID Registry 20171117"],"phenotypes":["MYSM1 deficiency","Bone marrow failure","neurodevelopmental delay","mid-face hypoplasia","immunodeficiency","Short stature, recurrent infections, congenital bone marrow failure, myelodysplasia, immunodeficiency affecting B-cells and granulocytes, skeletal anomalies, cataracts,  developmental delay.","Combined immunodeficiencies with associated or syndromic features"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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."}]}},{"gene_data":{"alias":["KIAA1915"],"biotype":"protein_coding","hgnc_id":"HGNC:29401","gene_name":"Myb like, SWIRM and MPN domains 1","omim_gene":["612176"],"alias_name":null,"gene_symbol":"MYSM1","hgnc_symbol":"MYSM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:59120411-59165764","ensembl_id":"ENSG00000162601"}},"GRch38":{"90":{"location":"1:58654739-58700092","ensembl_id":"ENSG00000162601"}}},"hgnc_date_symbol_changed":"2005-07-14"},"entity_type":"gene","entity_name":"MYSM1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","NHS GMS","Yorkshire and North East GLH"],"phenotypes":["618116 Bone marrow failure syndrome 4"],"mode_of_inheritance":"BIALLELIC, autosomal or 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)"}]}}]}