Primary ovarian insufficiency
Gene: MSH5Comment on list classification: Promoted from Red to Amber. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.Created: 14 May 2021, 8:30 a.m. | Last Modified: 14 May 2021, 8:30 a.m.
Panel Version: 1.35
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
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
Tag watchlist tag was added to gene: MSH5.
Gene: msh5 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MSH5 were changed from ?Premature ovarian failure 13 617442 to ?Premature ovarian failure 13, OMIM:617442
Publications for gene: MSH5 were set to 28175301
MSH5 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Other
MSH5 was created by ellenmcdonagh