| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Adult onset hereditary spastic paraplegia v0.146 | CYP27A1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.54 | CYP27A1 | Louise Daugherty Source Yorkshire and North East GLH was added to CYP27A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | CYP27A1 | Louise Daugherty commented on gene: CYP27A1: 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 v0.52 | CYP27A1 | Nick Beauchamp reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.6 | CYP27A1 | Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.5 | CYP27A1 | James Polke reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.4 | CYP27A1 |
Louise Daugherty Source Expert Review Green was added to CYP27A1. Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness for gene: CYP27A1 Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.3 | CYP27A1 | Louise Daugherty Source NHS GMS was added to CYP27A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.2 | CYP27A1 |
Louise Daugherty gene: CYP27A1 was added gene: CYP27A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CYP27A1 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||