| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Adult onset hereditary spastic paraplegia v0.146 | SLC25A46 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.127 | SLC25A46 | Louise Daugherty Publications for gene: SLC25A46 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.54 | SLC25A46 | Louise Daugherty Source Yorkshire and North East GLH was added to SLC25A46. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | SLC25A46 | Nick Beauchamp reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: None; Publications: 28369803; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | SLC25A46 | Louise Daugherty commented on gene: SLC25A46: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.6 | SLC25A46 | Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.5 | SLC25A46 | James Polke reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.4 | SLC25A46 |
Louise Daugherty Source Expert Review Red was added to SLC25A46. Mode of inheritance for gene SLC25A46 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.3 | SLC25A46 | Louise Daugherty Source NHS GMS was added to SLC25A46. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.2 | SLC25A46 |
Louise Daugherty gene: SLC25A46 was added gene: SLC25A46 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SLC25A46 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||