Activity
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10 actions
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| Hereditary spastic paraplegia, adult onset v0.146 | SPG11 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.131 | SPG11 | Louise Daugherty Publications for gene: SPG11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.54 | SPG11 | Louise Daugherty Source Yorkshire and North East GLH was added to SPG11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.53 | SPG11 | Nick Beauchamp reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.53 | SPG11 | Louise Daugherty commented on gene: SPG11: 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 | SPG11 | Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.5 | SPG11 | James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 11, autosomal recessive, 604360, Amyotrophic lateral sclerosis 5, juvenile, 602099, AR, Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.4 | SPG11 |
Louise Daugherty Source Expert Review Green was added to SPG11. Mode of inheritance for gene SPG11 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR; Amyotrophic lateral sclerosis 5, juvenile, 602099, AR for gene: SPG11 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Hereditary spastic paraplegia, adult onset v0.3 | SPG11 | Louise Daugherty Source NHS GMS was added to SPG11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.2 | SPG11 |
Louise Daugherty gene: SPG11 was added gene: SPG11 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SPG11 was set to |
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