PCYT2

phosphate cytidylyltransferase 2, ethanolamine
OMIM: 602679, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green PCYT2 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.308

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex hereditary spastic paraplegia
  • Spastic paraplegia 82, autosomal recessive, 618770
Green PCYT2 in Childhood onset hereditary spastic paraplegia


Version 4.39
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 82, autosomal recessive, 618770
Green PCYT2 in Adult onset hereditary spastic paraplegia


Version 3.21
Latest signed off version: v3.14 (31 Jul 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 82, autosomal recessive, 618770
Red PCYT2 in Likely inborn error of metabolism - targeted testing not possible


Version 4.131
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Global developmental delay
    • Developmental regression
    • Intellectual disability
    • Spastic paraparesis
    • Seizures
    • Spastic tetraparesis
    • Cerebral atrophy
    • Cerebellar atrophy
    Green PCYT2 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033
    Green PCYT2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.175
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Global developmental delay
    • Developmental regression
    • Intellectual disability
    • Spastic paraparesis
    • Seizures
    • Cerebral atrophy
    • Cerebellar atrophy
    • Spastic paraplegia 82, autosomal recessive, 618770
    Green PCYT2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.477
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spastic paraplegia 82, autosomal recessive, 618770
    • Global developmental delay
    • Developmental regression
    • Intellectual disability
    • Spastic paraparesis
    • Seizures
    • Spastic tetraparesis
    • Cerebral atrophy
    • Cerebellar atrophy
    Red PCYT2 in Hereditary neuropathy or pain disorder


    Version 3.83
    Latest signed off version: v3.24 (15 May 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Spastic paraplegia 82, autosomal recessive, OMIM:618770
    • axonal neuropathy, MONDO:0004183