Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: MASP2Comment on list classification: The MASP2 deficiency cases reported in OMIM seem to be later-onset, and only one variant has been reported so far (ASP120GLY, rs72550870). This variant has also been found in healthy adult individuals in a homozygous state and therefore the clinical impact of MASP2 deficiency remains uncertain. The studies reported in neonates do not seem to show clear evidence for variants in the gene inducing early-onset inflammatory disease.Created: 12 Oct 2016, 3:50 p.m.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
This gene has been classified as Red List (Low Evidence).
Publications for MASP2 were set to 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.
Publications for MASP2 were set to 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."
This gene has been classified as Amber List (Moderate Evidence).
Publications for MASP2 were set to 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.
MASP2 was created by ellenmcdonagh
MASP2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list