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| Mendeliome v2.260 | CFAP119 | Zornitza Stark Phenotypes for gene: CFAP119 were changed from Spermatogenic failure, MONDO:0004983, CCDC189-related to Spermatogenic failure, MONDO:0004983, CFAP119-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.259 | CFAP119 | Zornitza Stark Publications for gene: CFAP119 were set to 40759592 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.258 | CFAP119 | Zornitza Stark Classified gene: CFAP119 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.258 | CFAP119 | Zornitza Stark Gene: cfap119 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.257 | 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: 42290102, 42290102, 40759592; Changed phenotypes: Infertility disorder, MONDO:0005047 |
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| Mendeliome v2.0 | CFAP119 | Gene symbol changed from CCDC189 to CFAP119 during gene set migration (ENSG00000196118 -> ENSG00000196118) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2958 | CCDC189 |
Zornitza Stark gene: CCDC189 was added gene: CCDC189 was added to Mendeliome. Sources: Literature new gene name tags were added to gene: CCDC189. Mode of inheritance for gene: CCDC189 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC189 were set to 40759592 Phenotypes for gene: CCDC189 were set to Spermatogenic failure, MONDO:0004983, CCDC189-related Review for gene: CCDC189 was set to RED Added comment: Single individual with biallelic variants. Limited functional data. New HGNC approved name CFAP119. Sources: Literature |
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