PCYT2

phosphate cytidylyltransferase 2, ethanolamine
OMIM: 602679
PanelMode of inheritanceDetails
4 panels
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
R-numbers: R60
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 82, autosomal recessive, 618770
R-numbers: R61
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 82, autosomal recessive, 618770
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