Epileptic encephalopathyGene: SUOX
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
Sulfite oxidase deficiency 272300
SUOX was created by sleigh
SUOX was added to Epileptic encephalopathypanel. Sources: Emory Genetics Laboratory,Expert Review,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN