| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Arthrogryposis v0.183 | VAMP1 | Zornitza Stark Marked gene: VAMP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.183 | VAMP1 | Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.183 | VAMP1 | Zornitza Stark Classified gene: VAMP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.183 | VAMP1 | Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.182 | VAMP1 |
Zornitza Stark gene: VAMP1 was added gene: VAMP1 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VAMP1 were set to 28253535 Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25, MIM# 618323 Review for gene: VAMP1 was set to GREEN Added comment: Severe neonatal hypotonia and joint laxity, though joint contractures described in some affected individuals. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||