This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
Gene: MRE11
MRE11 (MRE11 homolog, double strand break repair nuclease)
EnsemblGeneIds (GRCh38): ENSG00000020922
EnsemblGeneIds (GRCh37): ENSG00000020922
OMIM: 600814, Gene2Phenotype
MRE11 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000020922
EnsemblGeneIds (GRCh37): ENSG00000020922
OMIM: 600814, Gene2Phenotype
MRE11 is in 17 panels
2 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gene (from correspondence with HGNC) : a change was made in the 1990s of the gene symbol MRE11 to MRE11A which left a withdrawn MRE11 gene symbol even though this was really just a rename.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 HGNC will now delete the MRE11~withdrawn symbol so that this confusion will not occur again.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: 4 Aug 2017, 8:14 a.m.
Rebecca Foulger (Genomics England curator)
Added in 'New gene name' tag: current HGNC symbol is MRE11.Created: 11 May 2017, 1:44 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Other
- Phenotypes
-
- Ataxia-telangiectasia-like disorder, 604391
- OMIM
- 600814
- Clinvar variants
- Variants in MRE11
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary haemorrhagic telangiectasia
- Childhood onset dystonia, chorea or related movement disorder
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intellectual disability
- COVID-19 research
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Ductal plate malformation
- Hereditary ataxia
- Fetal anomalies
- Severe microcephaly
- Hereditary neuropathy or pain disorder
History Filter Activity
5 Nov 2017, Gel status: 1
Changed Gene Name
GEL ()MRE11A was changed to MRE11
5 Nov 2017, Gel status: 1
Removed Tag
GEL ()new-gene-name was removed from MRE11A. Panel: Undiagnosed neurocutaneous disorders
11 May 2017, Gel status: 0
Changed Gene Name
Rebecca Foulger (Genomics England curator)MRE11* was changed to MRE11A
11 May 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)MRE11* was created by rfoulger
11 May 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)MRE11* was added to Undiagnosed neurocutaneous disorderspanel. Sources: Other