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| Mendeliome v1.4533 | RAD51AP2 | Zornitza Stark Marked gene: RAD51AP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4533 | RAD51AP2 | Zornitza Stark Gene: rad51ap2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4533 | RAD51AP2 | Zornitza Stark Classified gene: RAD51AP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4533 | RAD51AP2 | Zornitza Stark Gene: rad51ap2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4532 | RAD51AP2 |
Zornitza Stark gene: RAD51AP2 was added gene: RAD51AP2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RAD51AP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAD51AP2 were set to 41644825; 36153927 Phenotypes for gene: RAD51AP2 were set to Infertility disorder, MONDO:0005047, RAD51AP2-related Review for gene: RAD51AP2 was set to AMBER Added comment: PMID 41644825 reports one male patient from a Turkish consanguineous family and PMID 36153927 reports two brothers from an unrelated family; together three individuals from two unrelated families carry biallelic loss‑of‑function RAD51AP2 variants and present with non‑obstructive azoospermia and meiotic arrest. Both studies demonstrate autosomal recessive inheritance, and a mouse Rad51ap2 knockout recapitulates the infertility phenotype, providing functional support for causality. Sources: Literature |
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