| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.2760 | KCNU1 | Zornitza Stark Marked gene: KCNU1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2760 | KCNU1 | Zornitza Stark Gene: kcnu1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2760 | KCNU1 | Zornitza Stark Classified gene: KCNU1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2760 | KCNU1 | Zornitza Stark Gene: kcnu1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2759 | KCNU1 |
Zornitza Stark gene: KCNU1 was added gene: KCNU1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: KCNU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNU1 were set to 34980136; 35551387; 20138882; 21427226; 25271166; 35551387 Phenotypes for gene: KCNU1 were set to Spermatogenic failure 79, #MIM 620196 Review for gene: KCNU1 was set to GREEN Added comment: Literature in OMIM entry- PubMed: 34980136, 35551387- 3 unrelated male with spermatogenic failure with different homozygous variants, supported by functional evidence; PubMed: 20138882, 21427226, 25271166- Slo3 -/- KO mice were infertile, 35551387- mice with homozygous H720R variant, corresponding to the human H715R variant recapitulated human phenotype. Sources: Expert list |
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