Hereditary haemorrhagic telangiectasia

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 16 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Nomenclature history profile of this gene (from correspondence with HGNC) : a change was made in the 1990s of the gene symbol MRE11 to MRE11A which left a withdrawn MRE11 gene symbol even though this was really just a rename. Then, recently, MRE11A was named back to MRE11after MRE11B turned out to be a pseudogene and was renamed to MRE11P1. HGNC will now delete the MRE11~withdrawn symbol so that this confusion will not occur again. There is now only one MRE11 record, with HGNC:7230.
Created: 4 Aug 2017, 8:12 a.m.
added new-gene-name tag
Created: 9 Dec 2016, 4:01 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype Ataxia-telangiectasia-like disorder, 604391 in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported, 3 as homozygotes. Expert reviewer Claire Shovlin states that the phenotype is not relevant to this panel.
Created: 12 Dec 2016, 11:23 a.m.
New gene name is MRE11
Created: 12 Dec 2016, 11:14 a.m.

Claire Shovlin (Imperial College London)

Red List (low evidence)

The telangiectasia in ataxia telangiectasia are not the same as those in hereditary haemorrhagic telangiectasia, clinically or histopathologically (PMID: 6417247; PMID: 2666519; PMID: 2212727), and the serine threonine kinases belong to different signalling pathways. There is no evidence that I am aware of that the molecular pathways disrupted in these diseases overlap.
Created: 13 Nov 2016, 10:15 p.m.

History Filter Activity

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

MRE11A was changed to MRE11

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from MRE11A. Panel: Hereditary haemorrhagic telangiectasia

12 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 (12th December 2016)

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Dec 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MRE11A were set to Ataxia-telangiectasia-like disorder, 604391

12 Dec 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MRE11A were set to 6417247;2666519;2212727

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

19 Nov 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MRE11A was added to Hereditary haemorrhagic telangiectasiapanel. Source: UKGTN

19 Nov 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

MRE11A was added to Hereditary haemorrhagic telangiectasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene MRE11A was set to BIALLELIC, autosomal or pseudoautosomal

19 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MRE11A was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Radboud University Medical Center, Nijmegen

19 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MRE11A was created by ellenmcdonagh