Genomics England
GMS Panels
Panels
Genes and Entities

WWOX

WW domain containing oxidoreductase
OMIM: 605131
PanelMode of inheritanceDetails
4 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia 12, 614322
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 28, 616211
Green
in Hereditary ataxia - adult onset
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia 12, 6143232, Autosomal recessive spinocerebellar ataxia 12, 614322, Early infantile epileptic encephalopathy 28, 616211
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12