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Genetic epilepsy syndromes

Gene: SUOX

Green List (high evidence)

SUOX (sulfite oxidase)
EnsemblGeneIds (GRCh38): ENSG00000139531
EnsemblGeneIds (GRCh37): ENSG00000139531
OMIM: 606887, Gene2Phenotype
SUOX is in 9 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 symptoms
Created: 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

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
Created: 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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Sulfite oxidase deficiency
OMIM
606887
Clinvar variants
Variants in SUOX
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SUOX.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SUOX.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Seizures listed as a clinical

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SUOX. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

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

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

SUOX was created by Sarah Leigh