Hereditary ataxia
Gene: MRE11EnsemblGeneIds (GRCh38): ENSG00000020922
EnsemblGeneIds (GRCh37): ENSG00000020922
OMIM: 600814, Gene2Phenotype
MRE11 is in 17 panels
3 reviews
Louise Daugherty (Genomics England Curator)
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gene (from correspondence with HGNC) : a change was made in the 1990s of the gene symbol MRE11 to MRE11A which left a withdrawn MRE11 gene symbol even though this was really just a rename.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 HGNC will now delete the MRE11~withdrawn symbol so that this confusion will not occur again.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.
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Good evidence from OMIM and expert reviewCreated: 2 Feb 2016, 10:03 a.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Ataxia-Telangiectasia-Like Disorder
- Ataxia-telangiectasia-like disorder
- OMIM
- 600814
- Clinvar variants
- Variants in MRE11
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- COVID-19 research
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Ductal plate malformation
- Hereditary ataxia
- Fetal anomalies
- Severe microcephaly
- White matter disorders and cerebral calcification - narrow panel
- Hereditary haemorrhagic telangiectasia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Changed Gene Name
GEL ()MRE11A was changed to MRE11
Removed Tag
GEL ()new-gene-name was removed from MRE11A. Panel: Hereditary ataxia
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MRE11A was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)MRE11A was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MRE11A was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)MRE11A was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)MRE11A was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN