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Epileptic encephalopathy

Gene: SUOX

Green List (high evidence)

SUOX (sulfite oxidase)
EnsemblGeneIds (GRCh38): ENSG00000139531
EnsemblGeneIds (GRCh37): ENSG00000139531
OMIM: 606887, Gene2Phenotype
SUOX is in 13 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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 reported
6 Feb 2017, 10:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sulfite oxidase deficiency 272300

Publications

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