AQP4

aquaporin 4
OMIM: 600308, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber AQP4 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448

Amber AQP4 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 Amber
    • Literature
    Phenotypes
    • Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448

    Amber AQP4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448

    Amber AQP4 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.308

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448