Primary ovarian insufficiency

Gene: MSH5

Red List (low evidence)

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

2 reviews

Zornitza Stark (Australian Genomics)

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: 7 Jan 2021, 8:42 a.m. | Last Modified: 7 Jan 2021, 8:42 a.m.
Panel Version: 1.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Premature ovarian failure 13 MIM#617442

Publications

Ellen McDonagh (Genomics England Curator)

PMID: 28175301: new publication and disease entry in OMIM. Missense variant reported in 2 Han Chinese sisters.
Created: 15 Aug 2017, 11:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Premature ovarian failure 13 617442

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • ?Premature ovarian failure 13 617442
OMIM
603382
Clinvar variants
Variants in MSH5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Aug 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MSH5 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Other

15 Aug 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MSH5 was created by ellenmcdonagh