Genomics England

ectonucleoside triphosphate diphosphohydrolase 1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683
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 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683