Hereditary ataxia - adult onsetGene: SACS
ARSACS. On Ox and Sheffield panels.
Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Multiple reports in the literature including numerous frameshift and nonsense variants in large terminal exon. Multiple CNVs reported
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Charlevoix-Saguenay spastic ataxia, 270550
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to SACS.
Added phenotypes Charlevoix-Saguenay spastic ataxia, 270550 for gene: SACS
Source NHS GMS was added to SACS.
Source Wessex and West Midlands GLH was added to SACS.
Checked panel against panel constituents. Ready to promote to version 1.
gene: SACS was added gene: SACS was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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