Genomics England
GMS Panels
Panels
Genes and Entities
KPNA3
karyopherin subunit alpha 3
OMIM:
601892
See this entity in PanelApp
Panel
Mode of inheritance
Details
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Childhood onset hereditary spastic paraplegia
R-numbers:
R61
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
autosomal dominant pure spastic paraplegia, MONDO:0015088