| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.1888 | ZNF483 | Zornitza Stark Marked gene: ZNF483 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1888 | ZNF483 | Zornitza Stark Gene: znf483 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1888 | ZNF483 | Zornitza Stark Mode of inheritance for gene: ZNF483 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1887 | ZNF483 | Zornitza Stark Classified gene: ZNF483 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1887 | ZNF483 | Zornitza Stark Gene: znf483 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1886 | ZNF483 |
Mark Cleghorn gene: ZNF483 was added gene: ZNF483 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ZNF483 was set to Unknown Publications for gene: ZNF483 were set to 38951643 Phenotypes for gene: ZNF483 were set to primary ovarian failure MONDO:0005387 Review for gene: ZNF483 was set to AMBER Added comment: PMID: 38951643, ESHG 2024 presentation Large cohort assessing PRS for age of menarche Noted rare PTVs in ZNF483 assoc w earlier menarche No individual case information in this study Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||