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COVID-19 research

Gene: MASP1

Red List (low evidence)

MASP1 (mannan binding lectin serine peptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000127241
EnsemblGeneIds (GRCh37): ENSG00000127241
OMIM: 600521, Gene2Phenotype
MASP1 is in 10 panels

2 reviews

Sophie Hambleton (Newcastle University)

I don't know

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Although MASP2 is involved in Pyogenic infections, inflammatory lung disease, autoimmunity, there is no evidence to suggest other gene family members such as MASP1 variants, cause a relevant phenotype to this panel. MASP2 is listed in IUIS 2018 classification but not MASP1 is absent from an immunological classification. The ESID Registry/classification 20171117 lists both MASP genes, but more importantly MASP1 is absent on either GRID or GOSH pertinent PID gene lists
Created: 13 Jun 2018, 5:55 p.m.
Although MASP2 is involved in Pyogenic infections, inflammatory lung disease, autoimmunity, there is no evidence to suggest other gene family members such as MASP1 variants, cause a relevant phenotype to this panel
Created: 13 Jun 2018, 5:49 p.m.
Comment on list classification: Changed red to amber from external review for further review by PanelApp team
Created: 12 Jun 2018, 4:54 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: MASP1, PanelApp HGNC gene symbol check: MASP1, 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.

Details

Mode of Inheritance
Unknown
Sources
Phenotypes
  • Mannan-binding lectin serine protease (MASP) deficiency
OMIM
600521
Clinvar variants
Variants in MASP1
Penetrance
None
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: MASP1 was added gene: MASP1 was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117 Mode of inheritance for gene: MASP1 was set to Unknown Phenotypes for gene: MASP1 were set to Mannan-binding lectin serine protease (MASP) deficiency