Cerebral Palsy
Gene: SACSEnsemblGeneIds (GRCh38): ENSG00000151835
EnsemblGeneIds (GRCh37): ENSG00000151835
OMIM: 604490, Gene2Phenotype
SACS is in 18 panels
1 review
Luisa Weiss (University of Adelaide)
Multiple large and small cohort studies with more than 3 individual patients initially diagnosed as cerebral palsy and later diagnosed with biallelic SACS mutations. SACS is a known disease gene for spastic ataxia of Charlevoix-Saguenay, which can resemble CP but usually has a progressive course of disease.
Sources: LiteratureCreated: 31 Jul 2023, 3:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia, Charlevoix-Saguenay type MIM#270550
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spastic ataxia, Charlevoix-Saguenay type MIM#270550
- Tags
- OMIM
- 604490
- Clinvar variants
- Variants in SACS
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sacs has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sacs has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: SACS.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: SACS was added gene: SACS was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SACS were set to 33528536; 34816117; 29997391 Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Review for gene: SACS was set to GREEN