KPNA7

karyopherin subunit alpha 7
OMIM: 614107, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber KPNA7 in Mendeliome


Version 2.0

2 reviews 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 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), KPNA7-related

Amber KPNA7 in Infertility and Recurrent Pregnancy Loss


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 17, #MIM 620319