Primary immunodeficiencyGene: MBL2
Does not cause Mendelian disease but genotype influences infection risk and is widely screened for at present
Created: 23 Oct 2019, 7:10 a.m. | Last Modified: 23 Oct 2019, 7:10 a.m.
Panel Version: 1.132
Chronic infections due to MBL deficiency: 5% Europeans, 10% sub-saharan Africans, mostly unaffected. Increased risk of infections - is it useful clinically or if undergoing immunosuppression? Is it tested for clinically at present
Created: 26 Sep 2019, 3:57 p.m. | Last Modified: 26 Sep 2019, 3:57 p.m.
Panel Version: 1.130
relevant to 5-10% of the population and that there are three specific missense variants described. Rated Amber.
Created: 26 Sep 2019, 3:34 p.m. | Last Modified: 26 Sep 2019, 3:34 p.m.
Panel Version: 1.127
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: MBL2 GRID_Gene_Symbol: MBL2 GRID_Transcript_ENS_Community submitted: ENST00000373968 GRID_Transcript_RefSeq: NM_000242.2 GRID_Transcript_ENS_used_on_Production: ENST00000373968
Created: 26 Sep 2019, 10:21 a.m. | Last Modified: 26 Sep 2019, 10:21 a.m.
Panel Version: 1.120
Original metadata downloaded from ESID Registry. ESID_Gene_original: MBL, PanelApp HGNC gene symbol check: MBL2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Mannose-binding lectin (MBL) / Mannose-binding lectin deficiency (MBL)
Created: 26 Sep 2019, 8:43 a.m. | Last Modified: 26 Sep 2019, 8:43 a.m.
Panel Version: 1.120
Tag curated-variant-list tag was added to gene: MBL2.
Source Inherited complement deficiency v0.11 was added to MBL2. Source Expert Review Amber was added to MBL2. Source ESID Registry 20171117 was added to MBL2. Source GRID V2.0 was added to MBL2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Publications for gene: MBL2 were set to
Phenotypes for gene: MBL2 were changed from to Mannose-Binding Protein Deficiency, 614372; Chronic infections, due to MBL deficiency; Mannose-binding lectin deficiency (MBL)
Mode of inheritance for gene: MBL2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source London North GLH was added to MBL2.
Source NHS GMS was added to MBL2.
gene: MBL2 was added gene: MBL2 was added to Primary immunodeficiency. Sources: North West GLH Mode of inheritance for gene: MBL2 was set to