Early onset or syndromic epilepsy
Gene: SUOX
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR Sulfite Oxidase deficiency. Brumaru et al 2017, non-consang boy - seizures as well as other features - compound het. Kisker et al 1997, 4 mutations detected from cell lines from individuals with this disorder, Zaki et al, 2016, 3 cases of SOD (all epilepsy and other features) - novel hom missense variants detected in SUOX. Johnson et al, 2002 - 12 novel SUOX variants - 11 thought to lead to SOD (missense, nonesense and fs) - suggest all unrelated. variants hom. No clinical inof given other than most mutation sassociated with early onset and severe clinical symptomsCreated: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sulfite oxidase deficiency, 272300
Publications
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
Source Wessex and West Midlands GLH was added to SUOX.
Source NHS GMS was added to SUOX.
Sarah Leigh: Seizures listed as a clinical
Victorian Clinical Genetics Services was added to SUOX. Panel: Genetic Epilepsy Syndromes
SUOX was added to Genetic Epilepsy Syndromes panel. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review
SUOX was created by Sarah Leigh