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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia 12, 614322
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 28, 616211
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.0
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 - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12