Childhood onset hereditary spastic paraplegia
Gene: SACS
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
clinical features : early-onset spastic ataxia, retinal hypermyelination, mild mental retardation, cerebellar ataxia and pyramidal signs. In sheffields HSP panel. Victoria: GREENCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia, Charlevoix-Saguenay type, 270550
Onset in infancy or early childhoodCreated: 14 Jan 2019, 5:22 p.m.
Publications for gene: SACS were set to
Source Yorkshire and North East GLH was added to SACS.
Source NHS GMS was added to SACS.
Source London North GLH was added to SACS.
Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 for gene: SACS
Arianna Tucci: Onset in infancy or early chil
Phenotypes for gene: SACS were changed from Spastic ataxia, Charlevoix-Saguenay type to Spastic ataxia, Charlevoix-Saguenay type, 270550
gene: SACS was added gene: SACS was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type