| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.273 | WDR62 | Bryony Thompson Marked gene: WDR62 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.273 | WDR62 | Bryony Thompson Gene: wdr62 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.273 | WDR62 | Bryony Thompson Classified gene: WDR62 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.273 | WDR62 | Bryony Thompson Gene: wdr62 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.272 | WDR62 |
Bryony Thompson 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 Added comment: 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 |
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