Activity
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10 actions
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| Hereditary spastic paraplegia, adult onset v0.146 | CYP7B1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.82 | CYP7B1 | Louise Daugherty Publications for gene: CYP7B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.54 | CYP7B1 | Louise Daugherty Source Yorkshire and North East GLH was added to CYP7B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.53 | CYP7B1 | Louise Daugherty commented on gene: CYP7B1: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.52 | CYP7B1 | Nick Beauchamp reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252231, 19187859, 29126212; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.6 | CYP7B1 | Louise Daugherty reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.5 | CYP7B1 | James Polke reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive, 270800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.4 | CYP7B1 |
Louise Daugherty Source Expert Review Green was added to CYP7B1. Mode of inheritance for gene CYP7B1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 for gene: CYP7B1 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Hereditary spastic paraplegia, adult onset v0.3 | CYP7B1 | Louise Daugherty Source NHS GMS was added to CYP7B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.2 | CYP7B1 |
Louise Daugherty gene: CYP7B1 was added gene: CYP7B1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CYP7B1 was set to |
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