Hereditary spastic paraplegia - adult onsetGene: SACS
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.
clinical features : early-onset spastic ataxia, retinal hypermyelination, mild mental retardation, cerebellar ataxia and pyramidal signs. In sheffields HSP panel. Victoria: GREEN
Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic ataxia, Charlevoix-Saguenay type, 270550
Publications for gene: SACS were set to
Source Yorkshire and North East GLH was added to SACS.
Source Expert Review Green was added to SACS. Mode of inheritance for gene SACS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 for gene: SACS Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to SACS.
gene: SACS was added gene: SACS was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SACS was set to