PIK3C2B:Ensemblv90

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta
OMIM: 602838, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber PIK3C2B in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • familial partial epilepsy - MONDO#0017704

Amber PIK3C2B in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • familial partial epilepsy - MONDO#0017704

    Amber PIK3C2B in Focal Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.15

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • familial partial epilepsy - MONDO#0017704

    Amber PIK3C2B in Focal Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • familial partial epilepsy - MONDO#0017704