| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.2419 | DDX3Y | Zornitza Stark Marked gene: DDX3Y as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2419 | DDX3Y | Zornitza Stark Gene: ddx3y has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2419 | DDX3Y | Zornitza Stark Classified gene: DDX3Y as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2419 | DDX3Y | Zornitza Stark Gene: ddx3y has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2418 | DDX3Y |
Zornitza Stark gene: DDX3Y was added gene: DDX3Y was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: DDX3Y was set to Other Publications for gene: DDX3Y were set to 36997603 Phenotypes for gene: DDX3Y were set to Azoospermia, MONDO:0100459, DDX3Y-related Review for gene: DDX3Y was set to GREEN Added comment: PMID:36997603- Four (3 German, 1 Estonian) unrelated men with non-obstructive azoospermia carrying different LOF variants- absent in the gnomAD database (v2.1.1), abrogate at least the sequence of the C-terminal helicase domain, and are predicted to lead to degradation of the transcripts by nonsense-mediated decay. All four patients shared histological phenotype of Sertoli cell-only (SCO), reduced testicular volume, and had elevated FSH upon primary or later presentation indicative of spermatogenic failure. Mode of inheritance: Y-linked Sources: Expert Review |
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