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| Primary ovarian insufficiency v1.63 | PRDM9 |
Zornitza Stark gene: PRDM9 was added gene: PRDM9 was added to Primary ovarian insufficiency. Sources: Literature Mode of inheritance for gene: PRDM9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRDM9 were set to 34257419 Phenotypes for gene: PRDM9 were set to Premature ovarian insufficiency Review for gene: PRDM9 was set to GREEN Added comment: 3 pathogenic heterozygous variants in PRDM9 identified in 4 patients with POI. Functional studies showed the variants in PRDM9 impaired its methyltransferase activity. Prdm9+/- mice were subfertile, and showed increased percentage of germ cells at abnormal pachytene stage with decreased number of PRDM9-dependent DSBs and insufficient recombination. Sources: Literature |
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