Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: MASP1

I don't know

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.