White matter disorders and cerebral calcification - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Nijmegen breakage syndrome-like severe microcephaly
- OMIM
- 600814
- Clinvar variants
- Variants in MRE11
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ataxia and cerebellar anomalies - childhood onset
- Severe microcephaly
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary ataxia
- DDG2P
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Hereditary haemorrhagic telangiectasia
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Hereditary neuropathy
- Hereditary ataxia, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Hereditary neuropathy or pain disorder
History Filter Activity
8 Jan 2019, Gel status: 2
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MRE11 was added gene: MRE11 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRE11 were set to 21227757 Phenotypes for gene: MRE11 were set to Nijmegen breakage syndrome-like severe microcephaly