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Infertility and Recurrent Pregnancy Loss v2.17 CFAP119 Zornitza Stark Publications for gene: CFAP119 were set to 40759592
Infertility and Recurrent Pregnancy Loss v2.16 CFAP119 Zornitza Stark Classified gene: CFAP119 as Amber List (moderate evidence)
Infertility and Recurrent Pregnancy Loss v2.16 CFAP119 Zornitza Stark Gene: cfap119 has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v2.15 CFAP119 Zornitza Stark edited their review of gene: CFAP119: Added comment: PMID 42290102 reports two families with homozygous CFAP119 variants (c.709_711del frameshift and c.898C>T missense) presenting with severe oligoasthenoteratozoospermia (low count, poor motility, abnormal head/tail morphology). PMID 40759592 reports an additional consanguineous family harbouring the same homozygous missense c.898C>T variant. Functional studies demonstrate markedly reduced CFAP119 mRNA and protein levels, loss of CABCOCO1 interaction and flagellar structural defects, but no rescue experiments or animal‑model validation. Amber rating as two of the families have the same homozygous missense variant.; Changed rating: AMBER; Changed publications: 40759592, 42290102; Changed phenotypes: Spermatogenic failure, MONDO:0004983, CFAP119-related
Infertility and Recurrent Pregnancy Loss v2.0 CFAP119 Gene symbol changed from CCDC189 to CFAP119 during gene set migration (ENSG00000196118 -> ENSG00000196118)
Infertility and Recurrent Pregnancy Loss v1.17 CCDC189 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name CFAP119.