KPNA7

karyopherin subunit alpha 7
OMIM: 614107, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber KPNA7 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 17, MIM# 620319
  • Neurodevelopmental disorder (MONDO#0700092), KPNA7-related

Red KPNA7 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 Red
    • Literature
    • Expert Review Red
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO#0700092), KPNA7-related