Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: WDR62

Amber List (moderate evidence)

WDR62 (WD repeat domain 62)
EnsemblGeneIds (GRCh38): ENSG00000075702
EnsemblGeneIds (GRCh37): ENSG00000075702
OMIM: 613583, Gene2Phenotype
WDR62 is in 14 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two unrelated cases with primary amenorrhea were heterozygous for a missense (p.Cys599Tyr) and a frameshift (p.Thr1068fs) variant that demonstrated a dominant-negative effect on STRA8 expression. Wdr62 -/- mice were completely infertile with reduced ovary size and absent ovarian follicles in females.
Sources: Literature
Created: 6 Dec 2021, 4:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary ovarian insufficiency

Publications

History Filter Activity

6 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: wdr62 has been classified as Amber List (Moderate Evidence).

6 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: wdr62 has been classified as Amber List (Moderate 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: WDR62 was added gene: WDR62 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: WDR62 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR62 were set to 34794894; 30102701 Phenotypes for gene: WDR62 were set to Primary ovarian insufficiency Review for gene: WDR62 was set to AMBER