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Primary ovarian insufficiency v1.23 | BUB1B | Ivone Leong Classified gene: BUB1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary ovarian insufficiency v1.23 | BUB1B | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary ovarian insufficiency v1.23 | BUB1B | Ivone Leong Gene: bub1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary ovarian insufficiency v1.19 | BUB1B |
Zornitza Stark gene: BUB1B was added gene: BUB1B was added to Primary ovarian insufficiency. 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: The association between bi-allelic variants and mosaic variegated aneuploidy syndrome, MIM#257300 is well established. Moderate evidence for association between mono-allelic variants and POF, PMID 32716490 Sources: Literature |