Likely inborn error of metabolism - targeted testing not possible
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
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Spastic ataxia, Charlevoix-Saguenay type; Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) for gene: SACS Publications for gene SACS were changed from PMID: 14718708 (two family members); PMID: 10655055 (17 families with 24 patients); PMID: 15985586 (two siblings); PMID: 14718706 (two sisters); PMID: 12873855 (18 patients from 4 families); PMID: 16606928 (case study) to 12873855 (18 patients from 4 families); 15985586 (two siblings); 14718706 (two sisters); 16606928 (case study); 10655055 (17 families with 24 patients); 14718708 (two family members)
gene: SACS was added gene: SACS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SACS were set to PMID: 14718708 (two family members); PMID: 10655055 (17 families with 24 patients); PMID: 15985586 (two siblings); PMID: 14718706 (two sisters); PMID: 12873855 (18 patients from 4 families); PMID: 16606928 (case study) Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type; Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)