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

1 review

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