Mitochondrial disorders
Gene: SACSComment on list classification: More than 3 unrelated cases/families with the phenotype (publications include patients from Quebec, Tunisia and Japan). Probable DD gene for Spastic Ataxia, Charlevoix-Saquenay type. Reviewer of the hereditary ataxia panel indicates that variants within this gene are reported as part of diagnostic practice.Created: 15 Feb 2016, 3:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for SACS were set to Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS); Spastic ataxia, Charlevoix-Saguenay type
This gene has been classified as Green List (High Evidence).
Publications for SACS were set to PMID: 10655055 (17 families with 24 patients); PMID: 16606928 (case study); PMID: 15985586 (two siblings); PMID: 14718708 (two family members); PMID: 14718706 (two sisters); PMID: 12873855 (18 patients from 4 families)
Phenotypes for SACS were set to autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS); Spastic ataxia, Charlevoix-Saguenay type
SACS was created by [email protected]
SACS was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list