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STRs in panel
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Primary immunodeficiency

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

Sources
  • Expert Review Red
  • ESID Registry 20171117
Phenotypes
  • Mannan-binding lectin serine protease (MASP) deficiency
OMIM
600521
Clinvar variants
Variants in MASP1
Penetrance
None
Panels with this gene

History Filter Activity

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

13 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: masp1 has been classified as Red List (Low Evidence).

12 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: masp1 has been classified as Amber List (Moderate Evidence).

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

MASP1 was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

MASP1 was created by Louise Daugherty