Hereditary ataxia
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gene (from correspondence with HGNC) : a change was made in the 1990s of the gene symbol MRE11 to MRE11A which left a withdrawn MRE11 gene symbol even though this was really just a rename.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 HGNC will now delete the MRE11~withdrawn symbol so that this confusion will not occur again.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.
Comment when marking as ready: Good evidence from OMIM and expert reviewCreated: 2 Feb 2016, 10:03 a.m.
Good evidence in lit.Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-Telangiectasia-Like Disorder ; Ataxia-telangiectasia-like disorder
Variants in this GENE are reported as part of current diagnostic practice
MRE11A was changed to MRE11
new-gene-name was removed from MRE11A. Panel: Hereditary ataxia
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene MRE11A was changed to BIALLELIC, autosomal or pseudoautosomal
MRE11A was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene MRE11A was changed to BIALLELIC, autosomal or pseudoautosomal
MRE11A was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
MRE11A was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN