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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.218 | BMP8B | Bryony Thompson Marked gene: BMP8B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.218 | BMP8B | Bryony Thompson Gene: bmp8b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.218 | BMP8B |
Bryony Thompson gene: BMP8B was added gene: BMP8B was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: BMP8B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP8B were set to 34794894; 33095795; 10894154; 22579288 Phenotypes for gene: BMP8B were set to Primary ovarian insufficiency Review for gene: BMP8B was set to RED Added comment: Two heterozygous POI cases, one with p.Met342Val which has 32 hets in gnomAD v2.1 and p.Arg260Cys which has 642 hets in gnomAD v2.1. Both more common than expected for Mendelian disease. Knockout mouse models have defective primordial germ cell formation. Sources: Literature |
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