Hereditary ataxia
Gene: SACS
SACS (sacsin molecular chaperone)
EnsemblGeneIds (GRCh38): ENSG00000151835
EnsemblGeneIds (GRCh37): ENSG00000151835
OMIM: 604490, Gene2Phenotype
SACS is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000151835
EnsemblGeneIds (GRCh37): ENSG00000151835
OMIM: 604490, Gene2Phenotype
SACS is in 18 panels
2 reviews
Damian Smedley (Genomics England Curator)
Comment on list classification: Evidence from expert reviewer and OMIMCreated: 4 Feb 2016, 2:24 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Loads of evidence. Positives in our cohortCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia, Charlevoix-Saguenay type
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic ataxia, Charlevoix-Saguenay type
- OMIM
- 604490
- Clinvar variants
- Variants in SACS
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial disorders
- DDG2P
- Fetal anomalies
- 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
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
4 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Jul 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SACS was changed to BIALLELIC, autosomal or pseudoautosomal
6 Jul 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)SACS was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
6 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SACS was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN