Early onset or syndromic epilepsy
Gene: WWOX
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
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: WWOX were set to Tabarki (2015) Ben-Salam (2015) Mignot (2015)
Phenotypes for gene: WWOX were changed from to Epileptic encephalopathy, early infantile, 28, 616211
Source Wessex and West Midlands GLH was added to WWOX.
Source NHS GMS was added to WWOX.
Sarah Leigh: Not associated with phenotype
Victorian Clinical Genetics Services was added to WWOX. Panel: Genetic Epilepsy Syndromes
WWOX was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review,Expert Review Green
WWOX was created by Sarah Leigh