Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MASP2
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and should remain red.Created: 8 Mar 2022, 3:09 p.m. | Last Modified: 8 Mar 2022, 3:09 p.m.
Panel Version: 2.536
Low penetrance, soft phenotype - polymorphisms more of a risk factor than a disease alleleCreated: 29 Jun 2018, 2:25 p.m.
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.
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 RedCreated: 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 RedCreated: 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 2019Created: 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/ACreated: 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) deficiencyCreated: 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: ENST00000400897Created: 17 Apr 2018, 12:12 p.m.
Phenotypes for gene: MASP2 were changed from Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies; MASP2 deficiency 613791 to MASP2 deficiency, OMIM:613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity
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
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.
Publications for gene: MASP2 were set to
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
Mode of inheritance for gene: MASP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source London North GLH was added to MASP2.
Source NHS GMS was added to MASP2.
gene: MASP2 was added gene: MASP2 was added to Primary immunodeficiency. Sources: North West GLH Mode of inheritance for gene: MASP2 was set to