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Primary immunodeficiency

Gene: MASP2

Red List (low evidence)

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

3 reviews

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
  • IUIS Classification December 2019
  • 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
  • Mannan-binding lectin serine protease (MASP) deficiency
  • Pyogenic infections, inflammatory lung disease, autoimmunity
  • Complement Deficiencies
  • MASP2 deficiency 613791
OMIM
605102
Clinvar variants
Variants in MASP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to MASP2. Added phenotypes Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies for gene: MASP2 Publications for gene MASP2 were updated from 24658431 to 32048120; 24658431; 32086639

17 Sep 2019, Gel status: 1

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source GRID V2.0 was added to MASP2. Source Expert Review Red was added to MASP2. Source Victorian Clinical Genetics Services was added to MASP2. Source ESID Registry 20171117 was added to MASP2. Source IUIS Classification February 2018 was added to MASP2.

17 Sep 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: MASP2 were set to

17 Sep 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MASP2 were changed from to MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies

17 Sep 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: MASP2 was changed from to BIALLELIC, autosomal or pseudoautosomal

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to MASP2.

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MASP2.

17 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MASP2 was added gene: MASP2 was added to Primary immunodeficiency. Sources: North West GLH Mode of inheritance for gene: MASP2 was set to