WWOX:Ensemblv115

WW domain containing oxidoreductase
OMIM: 605131, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green WWOX in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy MIM#616211
  • Spinocerebellar ataxia MIM#6143223

Green WWOX in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 28, MIM# 616211
Tags
  • SV/CNV

Green WWOX in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green WWOX in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 12, 6143232
  • Early infantile epileptic encephalopathy 28, 616211
  • Autosomal recessive spinocerebellar ataxia 12, 614322

Green WWOX in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 28, 616211 (3)

Green WWOX in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322
  • Developmental and epileptic encephalopathy 28, MIM# 616211

Green WWOX in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322
  • Developmental and epileptic encephalopathy 28, MIM# 616211