Genomics England

WW domain containing oxidoreductase

Panel	Mode of inheritance	Details
Filter panels5 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 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Autosomal recessive spinocerebellar ataxia 12, 614322
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 614322, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 616211
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.0	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 6.0	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 Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12