Activity
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11 actions
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| Hereditary spastic paraplegia, adult onset v1.25 | WASHC5 | Ivone Leong Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant, 603563 to Spastic paraplegia 8, autosomal dominant, OMIM:603563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.146 | WASHC5 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.139 | WASHC5 | Louise Daugherty Publications for gene: WASHC5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.54 | WASHC5 | Louise Daugherty Source Yorkshire and North East GLH was added to WASHC5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.53 | WASHC5 | Nick Beauchamp reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17160902, 23455931; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.53 | WASHC5 | Louise Daugherty commented on gene: WASHC5: 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 | WASHC5 | Louise Daugherty reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.5 | WASHC5 | James Polke reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant, 603563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.4 | WASHC5 |
Louise Daugherty Source Expert Review Green was added to WASHC5. Mode of inheritance for gene WASHC5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563 for gene: WASHC5 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Hereditary spastic paraplegia, adult onset v0.3 | WASHC5 | Louise Daugherty Source NHS GMS was added to WASHC5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.2 | WASHC5 |
Louise Daugherty gene: WASHC5 was added gene: WASHC5 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: WASHC5 was set to |
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