Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Mendeliome v1.416 | CCDC34 | Zornitza Stark Marked gene: CCDC34 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.416 | CCDC34 | Zornitza Stark Gene: ccdc34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.416 | CCDC34 | Zornitza Stark Classified gene: CCDC34 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.416 | CCDC34 | Zornitza Stark Gene: ccdc34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.415 | CCDC34 |
Zornitza Stark gene: CCDC34 was added gene: CCDC34 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: CCDC34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC34 were set to 34348960 Phenotypes for gene: CCDC34 were set to Spermatogenic failure 76, MIM# 620084 Review for gene: CCDC34 was set to GREEN Added comment: Two unrelated individuals reported with homozygous frameshift variants. Mouse model recapitulated phenotype. Sources: Expert list |