| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3021 | CCDC89 | Bryony Thompson Marked gene: CCDC89 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3021 | CCDC89 | Bryony Thompson Gene: ccdc89 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3021 | CCDC89 | Bryony Thompson Classified gene: CCDC89 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3021 | CCDC89 | Bryony Thompson Gene: ccdc89 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3020 | CCDC89 |
Bryony Thompson gene: CCDC89 was added gene: CCDC89 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CCDC89 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC89 were set to 40591933 Phenotypes for gene: CCDC89 were set to spermatogenic failure MONDO:0004983 Review for gene: CCDC89 was set to AMBER Added comment: 2 missense identified in 3 males with non-obstructive azoospermia (2 homozygous for c.903G>T p.E301D, NFE AF 0.7% in gnomAD v4.1 & 1 chet for c.903G>T & c.1024G>A p.D342N - NFE AF 0.0086%). A homozygous knock-in mouse model for p.E301D (Ccdc89E297D/E297D) was fertile, their testis weights and germ cell content were reduced, and male knockouts (Ccdc89−/−) were sub-fertile. Sources: Literature |
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