Genomics England
GMS Panels
Panels
Genes and Entities

PCYT2

phosphate cytidylyltransferase 2, ethanolamine
OMIM: 602679
PanelMode of inheritanceDetails
4 panels
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
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 Hereditary spastic paraplegia - adult onset
R-numbers: R60
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 82, autosomal recessive, 618770
Green
in Hereditary spastic paraplegia - childhood onset
R-numbers: R61
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 82, autosomal recessive, 618770
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
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