Hereditary ataxia with onset in adulthood
Gene: 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 reportedCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
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