Hereditary Spastic Paraplegia - paediatric
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Complex neurological phenotype but spasticity is prominent.
Sources: Expert listCreated: 18 Apr 2020, 8:13 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 Review Green
- Expert list
- Phenotypes
-
- Spastic ataxia, Charlevoix-Saguenay type, MIM@ 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
18 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sacs has been classified as Green List (High Evidence).
18 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sacs has been classified as Green List (High Evidence).
18 Apr 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SACS was added gene: SACS was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list 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, MIM@ 270550 Review for gene: SACS was set to GREEN