Genomics England

PCYT2

phosphate cytidylyltransferase 2, ethanolamine

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 82, autosomal recessive, 618770
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 82, autosomal recessive, 618770
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033
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 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Global developmental delay, Developmental regression, Intellectual disability, Spastic paraparesis, Seizures, Cerebral atrophy, Cerebellar atrophy, Spastic paraplegia 82, autosomal recessive, 618770
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 82, autosomal recessive, 618770, Global developmental delay, Developmental regression, Intellectual disability, Spastic paraparesis, Seizures, Spastic tetraparesis, Cerebral atrophy, Cerebellar atrophy