Familial and multiple pulmonary arteriovenous malformations

Gene: MRE11

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gene (from correspondence with HGNC) : a change was made in the 1990s of the gene symbol MRE11 to MRE11A which left a withdrawn MRE11 gene symbol even though this was really just a rename.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 HGNC will now delete the MRE11~withdrawn symbol so that this confusion will not occur again.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: 20 Jul 2017, 2:59 p.m.

added new-gene-name tag

Created: 9 Dec 2016, 3:51 p.m.

New gene name is MRE11

Created: 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.

Red List (low evidence)

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.