Activity
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10 actions
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| Adult onset hereditary spastic paraplegia v0.146 | CDK16 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.79 | CDK16 | Louise Daugherty Publications for gene: CDK16 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.54 | CDK16 | Louise Daugherty Source Yorkshire and North East GLH was added to CDK16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | CDK16 | Nick Beauchamp reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: None; Publications: 25644381; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | CDK16 | Louise Daugherty commented on gene: CDK16: 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 v0.6 | CDK16 | Louise Daugherty reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.5 | CDK16 | James Polke reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia, x-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.4 | CDK16 |
Louise Daugherty Source Expert Review Red was added to CDK16. Mode of inheritance for gene CDK16 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Intellectual disability and spastic paraplegia, x-linked for gene: CDK16 |
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| Adult onset hereditary spastic paraplegia v0.3 | CDK16 | Louise Daugherty Source NHS GMS was added to CDK16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.2 | CDK16 |
Louise Daugherty gene: CDK16 was added gene: CDK16 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CDK16 was set to |
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