Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: MSH5

Amber List (moderate evidence)

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

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

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: msh5 has been classified as Amber List (Moderate Evidence).

11 Dec 2020, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: MSH5 were changed from to Premature ovarian failure 13 MIM#617442

11 Dec 2020, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: MSH5 were set to

11 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: msh5 has been classified as Amber List (Moderate Evidence).

11 Dec 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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