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Genetic epilepsy syndromes

Gene: WWOX

Green List (high evidence)

WWOX (WW domain containing oxidoreductase)
EnsemblGeneIds (GRCh38): ENSG00000186153
EnsemblGeneIds (GRCh37): ENSG00000186153
OMIM: 605131, Gene2Phenotype
WWOX is in 11 panels

6 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Usha Kini (Oxford Medical Genetics Laboratories) confirmed that WWOX should be on the epilepsy panel (personal communication via email on August 8th, 2019).
Created: 8 Aug 2019, 7:40 a.m. | Last Modified: 8 Aug 2019, 7:40 a.m.
Panel Version: 1.195
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 Early infantile epileptic encephalopathy - missense, nonsense, splicing and dels reported in association with epilepsy - 21/49 reported variants on HGMD associatedwith epilepsy/seizures.
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
pileptic encephalopathy, early infantile, 616211; Esophageal squamous cell carcinoma, somatic 133239; Spinocerebellar ataxia 12 614322

Publications

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Tabarki (2015) Ben-Salam (2015) Mignot (2015)

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Tabarki (2015) Ben-Salam (2015) Mignot (2015)

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Tabarki (2015) Ben-Salam (2015) Mignot (2015)

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Tabarki (2015) Ben-Salam (2015) Mignot (2015)

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review
Phenotypes
  • Epileptic encephalopathy, early infantile, 28, 616211
OMIM
605131
Clinvar variants
Variants in WWOX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: WWOX were set to Tabarki (2015) Ben-Salam (2015) Mignot (2015)

28 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: WWOX were changed from to Epileptic encephalopathy, early infantile, 28, 616211

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to WWOX.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to WWOX.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Not associated with phenotype

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

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

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

WWOX was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review,Expert Review Green

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

WWOX was created by Sarah Leigh