1. Genes and Genomic Entities
  2. KPNA3

KPNA3

karyopherin subunit alpha 3
OMIM: 601892, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green KPNA3 in Childhood onset hereditary spastic paraplegia


Version 4.42
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • autosomal dominant pure spastic paraplegia, MONDO:0015088
No list KPNA3 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • Literature
    Phenotypes
    • Infantile onset spastic paraplegia
    • developmental delay
    Tags
    • curated_removed