Structural basal ganglia disorders
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
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with Sulfite oxidase deficiency MIM 272300, however, this phenotype does not always include lesions in the basal ganglia. At least 19 variants reported.Created: 14 Mar 2017, 4:50 p.m.
Manju Kurian (UCL-Institute of Child Health)
Sometimes basal ganglia lesions seen?Created: 1 Mar 2017, 4:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- OMIM
- 606887
- Clinvar variants
- Variants in SUOX
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
16 Mar 2017, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
14 Mar 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
14 Mar 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)SUOX was created by Manju
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)SUOX was added to Structural basal ganglia disorderspanel. Sources: Literature