Genomics England

DHDDS

dehydrodolichyl diphosphate synthase subunit

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 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Developmental delay and seizures with or without movement abnormalities, OMIM:617836
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Developmental delay and seizures with or without movement abnormalities, OMIM:617836
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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental delay and seizures with or without movement abnormalities, OMIM:617836
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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental delay and seizures with or without movement abnormalities, OMIM:617836
Green in Retinal disorders R-numbers: R32 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Retinitis pigmentosa 59, OMIM:613861