Hereditary spastic paraplegia - adult onsetGene: 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.
Created: 9 May 2019, 4:50 p.m.
victoria: Mainly pure HSP. Some rare ataxia and reduced vibration. On current HSP panel + Sheffields HSP panel
Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Spastic paraplegia 8, autosomal dominant, 603563
Publications for gene: WASHC5 were set to
Source Yorkshire and North East GLH was added to WASHC5.
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)
Source NHS GMS was added to WASHC5.
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