Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: MRE11

Red List (low evidence)

Linked to an AT-like phenotype but no associated immunodeficiency seems to have been described to date

Created: 29 Jun 2018, 2:43 p.m.

Red List (low evidence)

Comment on list classification: Immunodeficiency does not appear to be a feature of Ataxia-telangiectasia-like disorder 1 604391. However, as part of the MRE11-RAD50-NBS1 Complex it is part of the core conductor for the initial and sustained responses to DNA double-strand breaks, stalled replication forks, dysfunctional telomeres, and viral DNA infection (pmid 29709199). Hence, variants in MRE11, could reduce the response to viral DNA integration in host cells,allowing infections to be propogated.

Created: 9 Apr 2020, 4:41 p.m. | Last Modified: 9 Apr 2020, 4:56 p.m.

Panel Version: 2.50

Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported, however, Ataxia-telangiectasia-like disorder 1 does not include immunO deficiency (PMID 8445618, 10612394).

Created: 1 May 2018, 1:38 p.m.

I don't know

Comment on list classification: Changed from Amber to Red based on external clinical expert review and review of the literature. Immunological association of this gene is not a primary phenotype and is better represented on other panels (Hereditary ataxia). Gene is pertinent on GRID panel for Immunological disorders. However gene not present on any other PID related panels or within IUIS classification. Request evidences / immunological association of this gene from GRID

Created: 4 Jul 2018, 1:18 p.m.

ATM-like: telangiectasia, raised alpha-fetoprotein, and reduced immunoglobulin levels, are absent

Created: 27 Jun 2018, 7:30 p.m.

Comment on phenotypes: added in the ESID disorder name

Created: 2 May 2018, 10:26 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: MRE11, PanelApp HGNC gene symbol check: MRE11, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / DNA-breakage disorder / AT-like disorder

Created: 17 Apr 2018, 12:29 p.m.

Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: MRE11, GRID_Gene_Symbol: MRE11A=MRE11, GRID_Transcript_ENS_Community submitted: ENST00000323929, GRID_Transcript_RefSeq: NM_005591, GRID_Transcript_ENS_used_on_Production: ENST00000323929

Created: 17 Apr 2018, 12:12 p.m.