Familial and multiple pulmonary arteriovenous malformations
Gene: MRE11Nomenclature 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gene (from correspondence with HGNC) : a change was made in the 1990s of the gene symbol MRE11 to MRE11A which left a withdrawn MRE11 gene symbol even though this was really just a rename.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 HGNC will now delete the MRE11~withdrawn symbol so that this confusion will not occur again.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: 20 Jul 2017, 2:59 p.m.
added new-gene-name tagCreated: 9 Dec 2016, 3:51 p.m.
New gene name is MRE11Created: 13 Dec 2016, 1:50 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported. Phenotype not relevant to this panel according to expert reviewer Claire Shovlin (Imperial College London)Created: 13 Dec 2016, 1:50 p.m.
I assume this listing has been made because pulmonary arteriovenous malformations are commonly due to underlying hereditary haemorrhagic telangiectasia (HHT), and MRE11 pathogenic variants lead to an ataxia telangiectasia-like disorder.
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, 11:01 p.m.
MRE11A was changed to MRE11
new-gene-name was removed from MRE11A. Panel: Familial and multiple pulmonary arteriovenous malformations
This gene has been classified as Red List (Low Evidence).
Phenotypes for MRE11A were set to Ataxia-telangiectasia-like disorder, 604391
Publications for MRE11A were set to 6417247; 2666519; 2212727
This gene has been classified as Red List (Low Evidence).
MRE11A was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
MRE11A was created by ellenmcdonagh