| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Leukodystrophy - paediatric v0.278 | ATP7A | Zornitza Stark Tag treatable tag was added to gene: ATP7A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.5 | ATP7A | Bryony Thompson Marked gene: ATP7A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.5 | ATP7A | Bryony Thompson Gene: atp7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.5 | ATP7A | Bryony Thompson Classified gene: ATP7A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.5 | ATP7A | Bryony Thompson Gene: atp7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.4 | ATP7A |
Bryony Thompson gene: ATP7A was added gene: ATP7A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ATP7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7A were set to 26937406; 21924848; 29789304 Phenotypes for gene: ATP7A were set to Menkes disease, 309400 Review for gene: ATP7A was set to GREEN Added comment: One of the features of Menkes disease is white matter changes and an ATP7A mouse model demonstrates hypomyelination. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||