Genomics England
GMS Panels
Panels
Genes and Entities

PCYT2

phosphate cytidylyltransferase 2, ethanolamine
OMIM: 602679
PanelMode of inheritanceDetails
4 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 3.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 82, autosomal recessive, 618770
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 82, autosomal recessive, 618770
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
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 - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
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