{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6902","gene_name":"mannan binding lectin serine peptidase 2","omim_gene":["605102"],"alias_name":null,"gene_symbol":"MASP2","hgnc_symbol":"MASP2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:11086580-11107290","ensembl_id":"ENSG00000009724"}},"GRch38":{"90":{"location":"1:11026523-11047233","ensembl_id":"ENSG00000009724"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"MASP2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 18596574 - \"infants later developing Necrotising enterocolitis had significantly higher MASP-2 cord blood levels compared with controls. Higher MASP-2 may favor complement-mediated inflammation and could thereby predispose to Necrotising enterocolitis.\"","PMID: 19307021 - 362 neonates samples were tested for the D120G variant, and no homozygotes for the variant were found. The variant significantly influenced MASP-2 protein concentration, but not the lectin pathway of complement activity (MBL-MASP-2 complex activity). No association of this SNP was apparent with prematurity, low birthweight or perinatal infections."],"evidence":["Expert Review Red","Expert list"],"phenotypes":["MASP2-deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":176,"hash_id":"56ba026c22c1fc5025762b50","name":"Infantile enterocolitis & monogenic inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.16","version_created":"2017-11-05T02:37:20.171671Z","relevant_disorders":["Infantile enterocolitis and monogenic inflammatory bowel disease"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6902","gene_name":"mannan binding lectin serine peptidase 2","omim_gene":["605102"],"alias_name":null,"gene_symbol":"MASP2","hgnc_symbol":"MASP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11086580-11107290","ensembl_id":"ENSG00000009724"}},"GRch38":{"90":{"location":"1:11026523-11047233","ensembl_id":"ENSG00000009724"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"MASP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24658431"],"evidence":["IUIS Classification February 2018","ESID Registry 20171117","Victorian Clinical Genetics Services","Expert Review Red","GRID V2.0","London North GLH","NHS GMS","North West GLH"],"phenotypes":["MASP2 deficiency 613791","Mannan-binding lectin serine protease (MASP) deficiency","Pyogenic infections, inflammatory lung disease, autoimmunity","Complement Deficiencies"],"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."}]}}]}