KPNA3:Ensemblv90

karyopherin subunit alpha 3
OMIM: 601892, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green KPNA3 in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia-88 (SPG88), MIM#620106

Green KPNA3 in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 1.130

Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spastic paraplegia-88 (SPG88), MIM#620106

    Green KPNA3 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Spastic paraplegia-88 (SPG88), MIM#620106