Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: MASP2EnsemblGeneIds (GRCh38): ENSG00000009724
EnsemblGeneIds (GRCh37): ENSG00000009724
OMIM: 605102, Gene2Phenotype
MASP2 is in 3 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment 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.
Neil shah (GOSH)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- MASP2-deficiency
- OMIM
- 605102
- Clinvar variants
- Variants in MASP2
- Penetrance
- Complete
- 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.
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)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.
Set publications
Ellen McDonagh (Genomics England Curator)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."
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)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.
Created
Ellen McDonagh (Genomics England Curator)MASP2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)MASP2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list