This Panel is marked as Retired
Epileptic encephalopathy
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
1 review
Sarah Leigh (Genomics England Curator)
Seizures listed as a clinical feature of Sulfite oxidase deficiency 272300, considered to be appropriate by Dr Arianna Tucci (Neurology, UCL). Associated with phenotype in OMIM, not in G2P / DD. At least 19 variants reportedCreated: 6 Feb 2017, 10:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sulfite oxidase deficiency 272300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Sulfite oxidase deficiency 272300
- OMIM
- 606887
- Clinvar variants
- Variants in SUOX
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Intellectual disability
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- DDG2P
History Filter Activity
6 Feb 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SUOX was created by sleigh
6 Feb 2017, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)SUOX was added to Epileptic encephalopathypanel. Sources: Emory Genetics Laboratory,Expert Review,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN