Hereditary neuropathy or pain disorder
Gene: MRE11EnsemblGeneIds (GRCh38): ENSG00000020922
EnsemblGeneIds (GRCh37): ENSG00000020922
OMIM: 600814, Gene2Phenotype
MRE11 is in 17 panels
5 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy association. Caution needed due to cancer associationsCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Hereditary Neuropathies
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
added new-gene-name tag - approved gene symbol 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gene (from correspondence with HGNC) : a change was made in the 1990s of the gene symbol MRE11 to MRE11A which left a withdrawn MRE11 gene symbol even though this was really just a rename.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 HGNC will now delete the MRE11~withdrawn symbol so that this confusion will not occur again.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, 8:05 a.m.
Alexander Rossor (UCL Institute of Neurology)
Not a CMT geneCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- NHS GMS
- South West GLH
- Phenotypes
-
- Hereditary Neuropathies
- OMIM
- 600814
- Clinvar variants
- Variants in MRE11
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia with onset in adulthood
- White matter disorders and cerebral calcification - narrow panel
- Ductal plate malformation
- Hereditary ataxia
- Hereditary haemorrhagic telangiectasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MRE11 was added gene: MRE11 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: MRE11 was set to Phenotypes for gene: MRE11 were set to Hereditary Neuropathies