Ataxia - adult onset
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
1 review
Bryony Thompson (Royal Melbourne Hospital)
Onset usually in infancy or early childhood.
Sources: Expert listCreated: 17 Apr 2020, 1:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia, Charlevoix-Saguenay type MIM#270550
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Spastic ataxia, Charlevoix-Saguenay type
- Charlevoix-Saguenay spastic ataxia, 270550
- OMIM
- 604490
- Clinvar variants
- Variants in SACS
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Mitochondrial disease
- Congenital nystagmus
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Regression
- Hereditary Spastic Paraplegia - adult onset
- Fetal anomalies
- Additional findings_Paediatric
- Ataxia - adult onset
- Mendeliome
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
- Cerebral Palsy
History Filter Activity
19 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SACS was added gene: SACS was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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; Charlevoix-Saguenay spastic ataxia, 270550