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Prepair 1000+

Gene: MRE11

Green List (high evidence)
MRE11 (MRE11 homolog, double strand break repair nuclease)
EnsemblGeneIds (GRCh38): ENSG00000020922
EnsemblGeneIds (GRCh37): ENSG00000020922
OMIM: 600814, Gene2Phenotype
MRE11 is in 8 panels

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Characterised clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.

Variable age of onset and progression, with some individuals described as Nijmegen breakage syndrome-like with severe microcephaly.
Created: 13 Sep 2024, 4:03 a.m. | Last Modified: 13 Sep 2024, 4:03 a.m.
Panel Version: 1.287

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia-telangiectasia-like disorder 1 (MIM#604391)

Publications

Created: 13 Sep 2024, 4:03 a.m.
Last Modified: 13 Sep 2024, 4:03 a.m.
Panel version: 1.287

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ataxia-telangiectasia-like disorder, 604391 (3)
OMIM
600814
Clinvar variants
Variants in MRE11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mre11 has been classified as Green List (High Evidence).

13 Sep 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MRE11 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Ataxia-telangiectasia-like disorder, 604391 (3) for gene: MRE11

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MRE11 was added gene: MRE11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder, 604391 (3)