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Primary immunodeficiency

Gene: MRE11

Red List (low evidence)

MRE11 (MRE11 homolog, double strand break repair nuclease)
EnsemblGeneIds (GRCh38): ENSG00000020922
EnsemblGeneIds (GRCh37): ENSG00000020922
OMIM: 600814, Gene2Phenotype
MRE11 is in 18 panels

3 reviews

Sophie Hambleton (Newcastle University)

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.

Sarah Leigh (Genomics England Curator)

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.

Louise Daugherty (Genomics England Curator)

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.

History Filter Activity

9 Apr 2020, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MRE11 were set to 8445618; 10612394; 15574463; 32212377

9 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: mre11 has been classified as Red List (Low Evidence).

9 Apr 2020, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MRE11 were set to 8445618; 10612394; 15574463

9 Apr 2020, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MRE11 were set to 8445618; 10612394; 15574463

8 Apr 2020, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MRE11 were set to 8445618; 10612394

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.

4 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: mre11 has been classified as Red List (Low Evidence).

4 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: mre11 has been classified as Red List (Low Evidence).

2 May 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MRE11 were set to Ataxia-telangiectasia-like disorder 1 604391; AT-like disorder

1 May 2018, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 May 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MRE11 were set to 8445618; 10612394

1 May 2018, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 May 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MRE11 were set to Ataxia-telangiectasia-like disorder 1 604391

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to MRE11. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

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

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene MRE11 were set to Ataxia-telangiectasia-like disorder

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

MRE11 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

MRE11 was created by Louise Daugherty