Ataxia - paediatric
Gene: MRE11
MRE11 (MRE11 homolog, double strand break repair nuclease)
EnsemblGeneIds (GRCh38): ENSG00000020922
EnsemblGeneIds (GRCh37): ENSG00000020922
OMIM: 600814, Gene2Phenotype
MRE11 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000020922
EnsemblGeneIds (GRCh37): ENSG00000020922
OMIM: 600814, Gene2Phenotype
MRE11 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. Variable age of onset and progression, with some individuals described as Nijmegen breakage syndrome-like with severe microcephaly.Created: 22 Apr 2021, 11:27 p.m. | Last Modified: 22 Apr 2021, 11:27 p.m.
Panel Version: 0.7286
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia-like disorder 1, MIM# 604391; MONDO:0024557
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ataxia-Telangiectasia-Like Disorder
- Ataxia-telangiectasia-like disorder 1, 604391
- OMIM
- 600814
- Clinvar variants
- Variants in MRE11
- Penetrance
- None
- Panels with this gene
History Filter Activity
19 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MRE11 was added gene: MRE11 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRE11 were set to Ataxia-Telangiectasia-Like Disorder; Ataxia-telangiectasia-like disorder 1, 604391