Activity
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10 actions
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| Hereditary spastic paraplegia, adult onset v0.146 | PLP1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.115 | PLP1 | Louise Daugherty Publications for gene: PLP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.54 | PLP1 | Louise Daugherty Source Yorkshire and North East GLH was added to PLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.53 | PLP1 | Nick Beauchamp reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8012387, 11093273, 7488049; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.53 | PLP1 | Louise Daugherty commented on gene: PLP1: 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 v0.6 | PLP1 | Louise Daugherty reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.5 | PLP1 | James Polke reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 2, X-linked recessive, 312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.4 | PLP1 |
Louise Daugherty Source Expert Review Green was added to PLP1. Mode of inheritance for gene PLP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Spastic paraplegia 2, X-linked recessive, 312920 for gene: PLP1 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Hereditary spastic paraplegia, adult onset v0.3 | PLP1 | Louise Daugherty Source NHS GMS was added to PLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.2 | PLP1 |
Louise Daugherty gene: PLP1 was added gene: PLP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: PLP1 was set to |
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