alternating hemiplegia of childhood 2
MONDO:0013900Mondo
Findings
No curated finding names alternating hemiplegia of childhood 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene.
Definition from the Mondo Disease Ontology (MONDO:0013900), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATP1A3HGNC:801
- Definitive · Ambry Genetics · Autosomal dominant · 2016
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2022
Where it sits
Other names
3 names
Resolves to: alternating hemiplegia of childhood 2
- Also called
- alternating hemiplegia of childhood caused by mutation in ATP1A3alternating hemiplegia of childhood type 2ATP1A3 alternating hemiplegia of childhood