Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Adult onset hereditary spastic paraplegia v0.70 ARSI Louise Daugherty Publications for gene: ARSI were set to Novarino et al. (2014)
Adult onset hereditary spastic paraplegia v0.70 ARSI Louise Daugherty Publications for gene: ARSI were set to Novarino et al. (2014)
Adult onset hereditary spastic paraplegia v0.69 ARSI Louise Daugherty Mode of inheritance for gene: ARSI was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.55 ARSI Louise Daugherty Source NHS GMS was added to ARSI.
Adult onset hereditary spastic paraplegia v0.54 ARSI Louise Daugherty Source Yorkshire and North East GLH was added to ARSI.
Adult onset hereditary spastic paraplegia v0.53 ARSI Nick Beauchamp reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.42 ARSI Louise Daugherty reviewed gene: ARSI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.30 ARSI Louise Daugherty Publications for gene ARSI were changed from to Novarino et al. (2014)
Adult onset hereditary spastic paraplegia v0.29 ARSI Chris Buxton reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.28 ARSI Louise Daugherty gene: ARSI was added
gene: ARSI was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: ARSI was set to