Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: MSH5

MSH5 (mutS homolog 5)
EnsemblGeneIds (GRCh38): ENSG00000204410
EnsemblGeneIds (GRCh37): ENSG00000204410
OMIM: 603382, Gene2Phenotype
MSH5 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5.
Created: 11 Dec 2020, 4:37 a.m. | Last Modified: 11 Dec 2020, 4:37 a.m.

Panel Version: 0.116

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Premature ovarian failure 13 MIM#617442

Publications

Created: 11 Dec 2020, 4:37 a.m.
Last Modified: 11 Dec 2020, 4:37 a.m.
Panel version: 0.116

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Genetic Health QLD

Phenotypes

Premature ovarian failure 13 MIM#617442

OMIM

603382

Clinvar variants

Variants in MSH5

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Jun 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MSH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

11 Dec 2020, Gel status: 2