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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. MSH4
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: MSH4

Green List (high evidence)
MSH4 (mutS homolog 4)
EnsemblGeneIds (GRCh38): ENSG00000057468
EnsemblGeneIds (GRCh37): ENSG00000057468
OMIM: 602105, Gene2Phenotype
MSH4 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

PMID: 34755185 - 2 siblings, 1 with non-obstructive azoospermia and 1 with POI, both homozygous for a stopgain variant. 1 male with non-obstructive azoospermia and biallelic variants.
PMID: 33448284 - 2 sisters with POI and 3 brothers with azoospermia in a consanguineous family with a homozygous missense variant (p.Ser754Leu)
PMID: 33437391 - 1 case with non-obstructive azoospermia with a homozygous stopgain variant
PMID: 32741963 - 2 unrelated cases with spermatogenic arrest with homozygous missense variants (p.Pro638Leu; p. Ser754Leu)
PMID: 28541421 - 2 sisters with POI and homozygous for a splice site variant
PMID: 10809667 - Msh4-/- male mice are infertile and Msh4-/- female mice lacked most oocytes in the ovaries.
Sources: Literature
Created: 6 Dec 2021, 3:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ovarian insufficiency; azoospermia

Publications

Created: 6 Dec 2021, 3:11 a.m.

Panel version: 0.259

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary ovarian insufficiency
  • azoospermia
OMIM
602105
Clinvar variants
Variants in MSH4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: msh4 has been classified as Green List (High Evidence).

6 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: msh4 has been classified as Green List (High Evidence).

6 Dec 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: MSH4 was added gene: MSH4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: MSH4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSH4 were set to 34794894; 10809667; 12478991; 28541421; 32741963; 33437391; 34755185; 33448284 Phenotypes for gene: MSH4 were set to Primary ovarian insufficiency; azoospermia Review for gene: MSH4 was set to GREEN