Activity
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5 actions
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.48 | BUB1B | Zornitza Stark Marked gene: BUB1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.48 | BUB1B | Zornitza Stark Gene: bub1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.48 | BUB1B | Zornitza Stark Classified gene: BUB1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.48 | BUB1B | Zornitza Stark Gene: bub1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.47 | BUB1B |
Zornitza Stark gene: BUB1B was added gene: BUB1B was added to Amenorrhoea. Sources: Literature Mode of inheritance for gene: BUB1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BUB1B were set to 32716490 Phenotypes for gene: BUB1B were set to Premature ovarian failure Review for gene: BUB1B was set to AMBER Added comment: There is a well established association between bi-allelic variants and mosaic variegated aneuploidy syndrome, MIM#257300 PMID: 32716490 - Chen et al 2020 - report 2 cases of heterogyzous variants in BUB1B in patients with premature ovarian insufficiency. In the familial case a rare missense variant of BUB1B c.273A>T (p.Gln91His) was shared by all affected individuals. A novel stop-gain variant of BUB1B c.1509T>A (p.Cys503*) was found in one of 200 sporadic POI cases and was found to be paternal in origin. In a mouse model with a loss-of-function mutant of Bub1b, Bub1b+/− female mice presented late-onset subfertility. Complete loss of Bub1b caused embryonic lethality in mice.. Sources: Literature |
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