Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: MSH5
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
Mode of inheritance for gene: MSH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: msh5 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MSH5 were changed from to Premature ovarian failure 13 MIM#617442
Publications for gene: MSH5 were set to
Gene: msh5 has been classified as Amber List (Moderate Evidence).
gene: MSH5 was added gene: MSH5 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD Mode of inheritance for gene: MSH5 was set to Unknown