Hereditary ataxia with onset in adulthood
Gene: SACSEnsemblGeneIds (GRCh38): ENSG00000151835
EnsemblGeneIds (GRCh37): ENSG00000151835
OMIM: 604490, Gene2Phenotype
SACS is in 18 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
ARSACS. On Ox and Sheffield panels.Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
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.
Tracy Lester (Genetics laboratory, Oxford UK)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Charlevoix-Saguenay spastic ataxia, 270550
- Spastic ataxia, Charlevoix-Saguenay type
- OMIM
- 604490
- Clinvar variants
- Variants in SACS
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Albinism or congenital nystagmus
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to SACS.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Charlevoix-Saguenay spastic ataxia, 270550 for gene: SACS
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SACS.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to SACS.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)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