Hereditary haemorrhagic telangiectasia

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gene (from correspondence with HGNC) : a change was made in the 1990s of the gene symbol MRE11 to MRE11A which left a withdrawn MRE11 gene symbol even though this was really just a rename.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 HGNC will now delete the MRE11~withdrawn symbol so that this confusion will not occur again.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: 4 Aug 2017, 8:12 a.m.

added new-gene-name tag

Created: 9 Dec 2016, 4:01 p.m.

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.

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.