Hereditary Spastic Paraplegia - paediatric
Gene: KPNA3EnsemblGeneIds (GRCh38): ENSG00000102753
EnsemblGeneIds (GRCh37): ENSG00000102753
OMIM: 601892, Gene2Phenotype
KPNA3 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia-88 (SPG88), MIM#620106
Ain Roesley (Victorian Clinical Genetics Services)
8 affecteds from 5 families with infantile-onset pure HSP
all missense variants, in vitro functional demonstrated reduced cargo binding
Noted that 1 individual had 2 de novo missense in the gene and though 1 is less deleterious than the other in the functional assays, authors were not able to rule out either one as a VUS
Sources: LiteratureCreated: 1 Nov 2021, 4:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
infantile onset Hereditary Spastic Paraplegia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Spastic paraplegia-88 (SPG88), MIM#620106
- OMIM
- 601892
- Clinvar variants
- Variants in KPNA3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KPNA3 were changed from Hereditary Spastic Paraplegia, infantile onset to Spastic paraplegia-88 (SPG88), MIM#620106
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kpna3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KPNA3 were changed from infantile onset Hereditary Spastic Paraplegia to Hereditary Spastic Paraplegia, infantile onset
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kpna3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: KPNA3 was added gene: KPNA3 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KPNA3 were set to 34564892 Phenotypes for gene: KPNA3 were set to infantile onset Hereditary Spastic Paraplegia Penetrance for gene: KPNA3 were set to Complete Review for gene: KPNA3 was set to GREEN gene: KPNA3 was marked as current diagnostic