Microcephaly
Gene: MRE11

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two individuals reported with this phenotype. Note gene is associated with Ataxia-telangiectasia-like disorder 1 60439 in OMIM, but microcephaly is not a feature. Unclear if the two individuals reported with Nijmegen breakage syndrome-like severe microcephaly represent a severe end of the phenotype associated with this gene or a distinct disorder.
Created: 31 Aug 2020, 6:32 a.m. | Last Modified: 31 Aug 2020, 6:32 a.m.

Panel Version: 0.189

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nijmegen breakage syndrome-like severe microcephaly

Publications

21227757

Created: 31 Aug 2020, 6:32 a.m.
Last Modified: 31 Aug 2020, 6:32 a.m.
Panel version: 0.189

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Nijmegen breakage syndrome-like severe microcephaly

OMIM

600814

Clinvar variants

Variants in MRE11

Penetrance

None

Publications

21227757

Panels with this gene