Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Craniosynostosis v1.5 | MEGF8 | Zornitza Stark Phenotypes for gene: MEGF8 were changed from Carpenter syndrome to Carpenter syndrome, MIM#614976 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Craniosynostosis v1.4 | MEGF8 | Zornitza Stark reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carpenter syndrome, MIM#614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Craniosynostosis v0.55 | MEGF8 | Tiong Tan Marked gene: MEGF8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Craniosynostosis v0.55 | MEGF8 | Tiong Tan Gene: megf8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Craniosynostosis v0.55 | MEGF8 | Tiong Tan Classified gene: MEGF8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Craniosynostosis v0.55 | MEGF8 | Tiong Tan Gene: megf8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Craniosynostosis v0.54 | MEGF8 |
Tiong Tan gene: MEGF8 was added gene: MEGF8 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MEGF8 were set to 23063620 Phenotypes for gene: MEGF8 were set to Carpenter syndrome Penetrance for gene: MEGF8 were set to Complete Review for gene: MEGF8 was set to GREEN Added comment: Craniosynostosis is a key feature of Carpenter syndrome - identified in 4/4 unrelated individuals with MEGF8 biallelic variants Sources: Literature |