Mitochondrial disorders
Gene: SACSEnsemblGeneIds (GRCh38): ENSG00000151835
EnsemblGeneIds (GRCh37): ENSG00000151835
OMIM: 604490, Gene2Phenotype
SACS is in 18 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
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.
Shamima Rahman (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
- Spastic ataxia, Charlevoix-Saguenay type
- OMIM
- 604490
- Clinvar variants
- Variants in SACS
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial disorders
- DDG2P
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Albinism or congenital nystagmus
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SACS were set to Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS); Spastic ataxia, Charlevoix-Saguenay type
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)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)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SACS were set to autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS); Spastic ataxia, Charlevoix-Saguenay type
Created
Shamima Rahman (UCL Institute of Child Health)SACS was created by [email protected]
Added New Source
Shamima Rahman (UCL Institute of Child Health)SACS was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list