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COVID-19 research

Gene: MASP2

Green List (high evidence)

MASP2 (mannan binding lectin serine peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000009724
EnsemblGeneIds (GRCh37): ENSG00000009724
OMIM: 605102, Gene2Phenotype
MASP2 is in 4 panels

4 reviews

Ellen McDonagh (Genomics England Curator)

PMID: 19405982 find no association with SARS-CoV susceptibility.
Sources: Literature
Created: 24 Mar 2020, 11:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Not associated with SARS-CoV susceptibility

Publications

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Low penetrance, soft phenotype - polymorphisms more of a risk factor than a disease allele
Created: 29 Jun 2018, 2:25 p.m.

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least one biallelic variant identified. However, the review article (PMID 24658431) reported "that 10 patients with MASP2 deficiency and serious diseases, mainly affecting the respiratory tract, had been reported. However, 7 healthy controls homozygous for MASP2 deficiency had also been reported. Thus, the clinical impact of MASP2 deficiency remained uncertain."
Created: 30 Apr 2018, 3:19 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

MASP2 deficiency: 4% caucasians, up to 18% of African populations - mostly asymptomatic. Is this a risk factor - is it useful in clinical practice? I don't know if this is a recurrent variant - may be too common?
Created: 26 Sep 2019, 3:56 p.m. | Last Modified: 26 Sep 2019, 3:56 p.m.
Panel Version: 1.130
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Red
Created: 26 Sep 2019, 2:56 p.m. | Last Modified: 26 Sep 2019, 2:56 p.m.
Panel Version: 1.127
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Red
Created: 26 Sep 2019, 2:56 p.m. | Last Modified: 26 Sep 2019, 2:56 p.m.
Panel Version: 1.127
Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019
Created: 26 Sep 2019, 2:56 p.m. | Last Modified: 26 Sep 2019, 2:56 p.m.
Panel Version: 1.127
Comment on list classification: Changed from Amber to Red until more info on gene and disease association, request evidences / immunological association of this gene from Victorian Clinical Genetics Services and GRID.
Created: 4 Jul 2018, 11:52 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): MASP2 .PanelApp HGNC gene symbol check: MASP2 . IUIS Disease: MASP2 deficiency . IUIS Inheritance: AR .T cells: Normal, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Pyogenic infections, inflammatory lung disease, autoimmunity. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A
Created: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: MASP2, PanelApp HGNC gene symbol check: MASP2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / Mannan-binding lectin serine protease (MASP) deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: MASP2, GRID_Gene_Symbol: MASP2, GRID_Transcript_ENS_Community submitted: ENST00000400897, GRID_Transcript_RefSeq: NM_006610.3, GRID_Transcript_ENS_used_on_Production: ENST00000400897
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • MASP2 deficiency 613791
  • Mannan-binding lectin serine protease (MASP) deficiency
  • Complement Deficiencies
  • Not associated with SARS-CoV susceptibility
  • Pyogenic infections, inflammatory lung disease, autoimmunity
OMIM
605102
Clinvar variants
Variants in MASP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to MASP2. Added phenotypes Complement Deficiencies; MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity for gene: MASP2 Publications for gene MASP2 were updated from 24658431; 32086639; 32048120; 19405982 to 24658431; 32086639; 32048120; 19405982 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene MASP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Complement Deficiencies; MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity for gene: MASP2 Publications for gene MASP2 were updated from 19405982 to 24658431; 32086639; 32048120; 19405982

24 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MASP2 was added gene: MASP2 was added to Monogenic viral susceptibility. Sources: Literature Mode of inheritance for gene: MASP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MASP2 were set to 19405982 Phenotypes for gene: MASP2 were set to Not associated with SARS-CoV susceptibility