This Panel is marked as Internal
Dystonia - childhood onset
Gene: SUOX
SUOX (sulfite oxidase)
EnsemblGeneIds (GRCh38): ENSG00000139531
EnsemblGeneIds (GRCh37): ENSG00000139531
OMIM: 606887, Gene2Phenotype
SUOX is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000139531
EnsemblGeneIds (GRCh37): ENSG00000139531
OMIM: 606887, Gene2Phenotype
SUOX is in 10 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dystonia
- OMIM
- 606887
- Clinvar variants
- Variants in SUOX
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- DDG2P
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: SUOX was added gene: SUOX was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUOX were set to Dystonia