Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MRE11
Linked to an AT-like phenotype but no associated immunodeficiency seems to have been described to dateCreated: 29 Jun 2018, 2:43 p.m.
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.
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 GRIDCreated: 4 Jul 2018, 1:18 p.m.
ATM-like: telangiectasia, raised alpha-fetoprotein, and reduced immunoglobulin levels, are absentCreated: 27 Jun 2018, 7:30 p.m.
Comment on phenotypes: added in the ESID disorder nameCreated: 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 disorderCreated: 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: ENST00000323929Created: 17 Apr 2018, 12:12 p.m.
Publications for gene: MRE11 were set to 8445618; 10612394; 15574463; 32212377
Gene: mre11 has been classified as Red List (Low Evidence).
Publications for gene: MRE11 were set to 8445618; 10612394; 15574463
Publications for gene: MRE11 were set to 8445618; 10612394; 15574463
Publications for gene: MRE11 were set to 8445618; 10612394
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.
Gene: mre11 has been classified as Red List (Low Evidence).
Gene: mre11 has been classified as Red List (Low Evidence).
Phenotypes for MRE11 were set to Ataxia-telangiectasia-like disorder 1 604391; AT-like disorder
This gene has been classified as Amber List (Moderate Evidence).
Publications for MRE11 were set to 8445618; 10612394
This gene has been classified as Red List (Low Evidence).
Phenotypes for MRE11 were set to Ataxia-telangiectasia-like disorder 1 604391
Expert Review Amber was added to MRE11. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to MRE11. Panel: Primary immunodeficiency disorders Phenotypes for gene MRE11 were set to Ataxia-telangiectasia-like disorder, AT-like disorder
Phenotypes for gene MRE11 were set to Ataxia-telangiectasia-like disorder
MRE11 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
MRE11 was created by Louise Daugherty