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  3. WWOX
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Ataxia - paediatric

Gene: WWOX

Green List (high evidence)
WWOX (WW domain containing oxidoreductase)
EnsemblGeneIds (GRCh38): ENSG00000186153
EnsemblGeneIds (GRCh37): ENSG00000186153
OMIM: 605131, Gene2Phenotype
WWOX is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene are associated with neurodevelopmental phenotypes, characterised by seizures, ID, and sometimes movement disorders. Likely represent a spectrum of severity rather than distinct disorders.

Over 50 affected individuals reported, reviewed in PMID 33916893.
Created: 6 Dec 2021, 6:27 a.m. | Last Modified: 6 Dec 2021, 6:27 a.m.
Panel Version: 0.10123

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322; Developmental and epileptic encephalopathy 28, MIM# 616211

Publications

Created: 6 Dec 2021, 6:27 a.m.
Last Modified: 6 Dec 2021, 6:27 a.m.
Panel version: Imported from Mendeliome panel version 0.10123

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 12, 6143232
  • Early infantile epileptic encephalopathy 28, 616211
  • Autosomal recessive spinocerebellar ataxia 12, 614322
OMIM
605131
Clinvar variants
Variants in WWOX
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: WWOX was added gene: WWOX was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WWOX were set to Autosomal recessive spinocerebellar ataxia 12, 6143232; Early infantile epileptic encephalopathy 28, 616211; Autosomal recessive spinocerebellar ataxia 12, 614322