| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.4386 | AKAP3 | Bryony Thompson Classified gene: AKAP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4386 | AKAP3 | Bryony Thompson Gene: akap3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4385 | AKAP3 |
Bryony Thompson gene: AKAP3 was added gene: AKAP3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: AKAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKAP3 were set to 35228300; 31969357 Phenotypes for gene: AKAP3 were set to spermatogenic failure MONDO:0004983 Review for gene: AKAP3 was set to AMBER Added comment: 2 unrelated males from consanguineous families with homozygous variants (frameshift, missense), and supporting mouse model. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||