| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.211 | BMPR1B | Bryony Thompson Marked gene: BMPR1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.211 | BMPR1B | Bryony Thompson Gene: bmpr1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.211 | BMPR1B | Bryony Thompson Classified gene: BMPR1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.211 | BMPR1B | Bryony Thompson Gene: bmpr1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.210 | BMPR1B |
Bryony Thompson gene: BMPR1B was added gene: BMPR1B was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: BMPR1B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: BMPR1B were set to 34794894; 15805157; 28505269; 31769494 Phenotypes for gene: BMPR1B were set to Acromesomelic dysplasia 3 MIM#609441; primary ovarian insufficiency Review for gene: BMPR1B was set to AMBER Added comment: A homozygous truncating variant in a syndromic case with hypergonadic hypogonadism as a feature of the condition. Two unrelated POI cases with a heterozygous missense variant (p.Arg254His and p.Phe272Leu). In vitro functional assay data demonstrating p.Phe272Leu alters BMP signalling. Sources: Literature |
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