Adult onset neurodegenerative disorder
Gene: SACSEnsemblGeneIds (GRCh38): ENSG00000151835
EnsemblGeneIds (GRCh37): ENSG00000151835
OMIM: 604490, Gene2Phenotype
SACS is in 18 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a complex neurodegenerative disorder usually characterized by early childhood onset of cerebellar ataxia, pyramidal tract signs, and peripheral neuropathy.The disease had a long course with little progression after age 20 years. Childhood onset - redCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia, Charlevoix-Saguenay type
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Not associated with neurodegnerationCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia, Charlevoix-Saguenay type
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
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. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Phenotypes
-
- Spastic ataxia, Charlevoix-Saguenay type
- OMIM
- 604490
- Clinvar variants
- Variants in SACS
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Childhood onset hereditary spastic paraplegia
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Hereditary spastic paraplegia
- Albinism or congenital nystagmus
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to SACS. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to SACS.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to 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 London North GLH was added to SACS.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: amended
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Spastic ataxia, Charlevoix-Saguenay type for gene: SACS
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SACS was added gene: SACS was added to Neurodegenerative disorders - adult onset. Sources: 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