Hereditary haemorrhagic telangiectasia
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gene (from correspondence with HGNC) : a change was made in the 1990s of the gene symbol MRE11 to MRE11A which left a withdrawn MRE11 gene symbol even though this was really just a rename.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 HGNC will now delete the MRE11~withdrawn symbol so that this confusion will not occur again.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: 4 Aug 2017, 8:12 a.m.
added new-gene-name tagCreated: 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 MRE11Created: 12 Dec 2016, 11:14 a.m.
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.
MRE11A was changed to MRE11
new-gene-name was removed from MRE11A. Panel: Hereditary haemorrhagic telangiectasia
Promoted to V1 (12th December 2016)
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 Hereditary haemorrhagic telangiectasiapanel. Source: UKGTN
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
MRE11A was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Radboud University Medical Center, Nijmegen
MRE11A was created by ellenmcdonagh