Childhood onset hereditary spastic paraplegia
Gene: ATP1A3

ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 17 panels

1 review

Katherine Schon (University of Cambridge)

Green List (high evidence)

Recurrent de novo pathogenic variant reported in nine individuals with childhood onset of phenotypes resembling complex hereditary spastic paraplegia or idiopathic spastic cerebral palsy.
Sources: Literature
Created: 9 Aug 2026, 7:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
spasticity; developmental delay; intellectual disability

Publications

PMID: 37043503

Created: 9 Aug 2026, 7:16 p.m.

Panel version: 9.6

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Phenotypes

spasticity
developmental delay
intellectual disability

OMIM

182350

Clinvar variants

Variants in ATP1A3

Penetrance

Complete

Publications

PMID: 37043503

Panels with this gene

History Filter Activity

9 Aug 2026, Gel status: 0

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

Katherine Schon (University of Cambridge)

gene: ATP1A3 was added gene: ATP1A3 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A3 were set to PMID: 37043503 Phenotypes for gene: ATP1A3 were set to spasticity; developmental delay; intellectual disability Penetrance for gene: ATP1A3 were set to Complete Review for gene: ATP1A3 was set to GREEN

Childhood onset hereditary spastic paraplegia Gene: ATP1A3