| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ataxia - paediatric v0.67 | TMEM240 | Zornitza Stark Marked gene: TMEM240 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.67 | TMEM240 | Zornitza Stark Gene: tmem240 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.67 | TMEM240 | Zornitza Stark Classified gene: TMEM240 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.67 | TMEM240 | Zornitza Stark Gene: tmem240 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.66 | TMEM240 |
Zornitza Stark gene: TMEM240 was added gene: TMEM240 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM240 were set to 25070513 Phenotypes for gene: TMEM240 were set to Spinocerebellar ataxia 21, MIM# 607454 Review for gene: TMEM240 was set to GREEN Added comment: At least 8 unrelated families reported. Onset in the first decades of life, including in childhood, of slowly progressive cerebellar ataxia, which is associated with cognitive impairment in most patients Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||