| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.4804 | CAPZA1 | Zornitza Stark Marked gene: CAPZA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4804 | CAPZA1 | Zornitza Stark Gene: capza1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4804 | CAPZA1 | Zornitza Stark Classified gene: CAPZA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4804 | CAPZA1 | Zornitza Stark Gene: capza1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4803 | CAPZA1 |
Zornitza Stark gene: CAPZA1 was added gene: CAPZA1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CAPZA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPZA1 were set to 41858859 Phenotypes for gene: CAPZA1 were set to Infertility disorder, MONDO:0005047 Review for gene: CAPZA1 was set to AMBER Added comment: PMID 41858859 reports four individuals from different families with autosomal recessive asthenozoospermia due to a homozygous missense variant c.11T>C (p.Phe4Ser) in CAPZA1. Segregation analysis confirms biallelic inheritance, and mouse knockout and in‑vitro assays demonstrate reduced CAPZA1 protein and disrupted sperm flagellar structure, providing supportive functional evidence. Sources: Literature |
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