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Mendeliome

Gene: MSH5

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spermatogenic failure 74, MIM# 619937

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

4 unrelated male azoospermia cases with 3 different homozygous frameshift/missense variants. 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.
Sources: Literature
Created: 11 Dec 2020, 5:34 a.m. | Last Modified: 6 Dec 2021, 3:23 a.m.
Panel Version: 0.10100

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Azoospermia; Premature ovarian failure 13 MIM#617442

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 74, MIM# 619937
  • 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: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MSH5 were changed from Premature ovarian failure 13, MIM#617442; Premature ovarian failure 13, MIM#617442 to Spermatogenic failure 74, MIM# 619937; Premature ovarian failure 13, MIM#617442

29 Jun 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: msh5 has been classified as Green List (High Evidence).

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

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, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: MSH5 was added gene: MSH5 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MSH5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSH5 were set to 28175301; 9916805; 24970489 Phenotypes for gene: MSH5 were set to Premature ovarian failure 13 MIM#617442 Review for gene: MSH5 was set to AMBER