PI4K2A

phosphatidylinositol 4-kinase type 2 alpha
OMIM: 609763, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red PI4K2A in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cutis laxa, intellectual disability, movement disorder

Green PI4K2A in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM# 620732
  • Cutis laxa, intellectual disability, movement disorder

Green PI4K2A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM# 620732

    Green PI4K2A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM# 620732