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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.230 | BMPR2 | Bryony Thompson Marked gene: BMPR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.230 | BMPR2 | Bryony Thompson Gene: bmpr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.230 | BMPR2 |
Bryony Thompson gene: BMPR2 was added gene: BMPR2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMPR2 were set to 34794894; 33095795; 28306340; 25989972 Phenotypes for gene: BMPR2 were set to Primary ovarian insufficiency Review for gene: BMPR2 was set to RED Added comment: PMID: 33095795 - 1 POI case with missense p.Val453Met PMID: 28306340, 25989972 - 1 POI case with p.Ser987Phe (unaffected mother also has the variant), and in vitro functional assays demonstrating a significant increase in protein-like aggregation patterns in the endoplasmic reticulum. However, there are 24 hets for the variant in gnomAD v2.1 Sources: Literature |
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