Possible mitochondrial disorder - nuclear genes
Gene: SACSEnsemblGeneIds (GRCh38): ENSG00000151835
EnsemblGeneIds (GRCh37): ENSG00000151835
OMIM: 604490, Gene2Phenotype
SACS is in 18 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Comment on mode of inheritance: changed BiALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal - pipeline is case sensitiveCreated: 7 Aug 2019, 11:16 a.m. | Last Modified: 7 Aug 2019, 11:16 a.m.
Panel Version: 1.2
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BiALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia, Charlevoix-Saguenay type, 270550
Ellen McDonagh (Genomics England Curator)
Comment on list classification: More than 3 unrelated cases/families with the phenotype (publications include patients from Quebec, Tunisia and Japan). Probable DD gene for Spastic Ataxia, Charlevoix-Saquenay type. Reviewer of the hereditary ataxia panel indicates that variants within this gene are reported as part of diagnostic practice.Created: 15 Feb 2016, 3:50 p.m.
Shamima Rahman (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Spastic ataxia, Charlevoix-Saguenay type, 270550
- 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
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: SACS was changed from BiALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SACS was added gene: SACS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS 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, 270550