Hereditary spastic paraplegia - childhood onset

Gene: KPNA3

No list

KPNA3 (karyopherin subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000102753
EnsemblGeneIds (GRCh37): ENSG00000102753
OMIM: 601892, Gene2Phenotype
KPNA3 is in 2 panels

1 review

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

8 reported families with de novo missense variants, that segregates with pure HSP with infantile onset and some functional data PMID: 34564892
Sources: Literature
Created: 25 Oct 2021, 5:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Infantile onset spastic paraplegia; developmental delay

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Infantile onset spastic paraplegia
  • developmental delay
OMIM
601892
Clinvar variants
Variants in KPNA3
Penetrance
unknown
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Dmitrijs Rots (RadboudUMC)

gene: KPNA3 was added gene: KPNA3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KPNA3 were set to PMID: 34564892 Phenotypes for gene: KPNA3 were set to Infantile onset spastic paraplegia; developmental delay Penetrance for gene: KPNA3 were set to unknown Mode of pathogenicity for gene: KPNA3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: KPNA3 was set to GREEN