| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.229 | BMPR1A | Bryony Thompson Marked gene: BMPR1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.229 | BMPR1A | Bryony Thompson Gene: bmpr1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.229 | BMPR1A | Bryony Thompson Classified gene: BMPR1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.229 | BMPR1A | Bryony Thompson Gene: bmpr1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.228 | BMPR1A |
Bryony Thompson gene: BMPR1A was added gene: BMPR1A was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMPR1A were set to 28505269; 34794894; 31769494; 20363875 Phenotypes for gene: BMPR1A were set to Primary ovarian insufficiency Review for gene: BMPR1A was set to AMBER Added comment: Two POI cases reported with 2 different missense variants (p.Arg442His, p.Tyr425Cys). Arg442His has supporting in vitro functional evidence. Bmpr1a conditional knockout female mice are subfertile with reduced spontaneous ovulation. No POI reported in association with juvenile polyposis syndrome, which is caused by heterozygous variants in BMPR1A. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||