Possible mitochondrial disorder - nuclear genes
Gene: SACSComment on mode of inheritance: changed BiALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal - pipeline is case sensitiveCreated: 7 Aug 2019, 11:16 a.m. | Last Modified: 7 Aug 2019, 11:16 a.m.
Panel Version: 1.2
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BiALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia, Charlevoix-Saguenay type, 270550
Comment 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
Mode of inheritance for gene: SACS was changed from BiALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
gene: SACS was added gene: SACS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS 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, 270550