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  3. KPNA3
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DDG2P

Gene: KPNA3

No list
KPNA3 (karyopherin subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000102753
EnsemblGeneIds (GRCh37): ENSG00000102753
OMIM: 601892, Gene2Phenotype
KPNA3 is in 2 panels

2 reviews

Eleanor Williams (Genomics England Curator)

This panel reflects the content of the DD panel on the Gene2Phenotype resource. the KPNA3 gene is not currently listed there and so this gene will not be added to this panel here. However, it will be assessed for inclusion on other PanelApp panels.
Created: 4 Aug 2022, 4:29 p.m. | Last Modified: 4 Aug 2022, 4:29 p.m.
Panel Version: 2.76
Created: 4 Aug 2022, 4:29 p.m.
Last Modified: 4 Aug 2022, 4:29 p.m.
Panel version: 2.76

Dmitrijs Rots (Children's Clinical University Hospital)

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, 5:57 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

Created: 25 Oct 2021, 5:57 a.m.

Panel version: 2.50

Details

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

10 Aug 2022, Gel status: 0

Added Tag

Eleanor Williams (Genomics England Curator)

Tag curated_removed tag was added to gene: KPNA3.

10 Aug 2022, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kpna3 has been removed from the panel.

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 (Children's Clinical University Hospital)

gene: KPNA3 was added gene: KPNA3 was added to DDG2P. 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