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  3. ATP1A3
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Ataxia - paediatric

Gene: ATP1A3

Green List (high evidence)
ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 16 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene are associated with a range of neurological phenotypes. Note that the p.Glu818Lys variant is recurrent in CAPOS.
Created: 30 Mar 2021, 10:13 a.m. | Last Modified: 30 Mar 2021, 10:13 a.m.
Panel Version: 0.6954

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alternating hemiplegia of childhood 2, MIM# 614820; CAPOS syndrome, MIM# 601338; Dystonia-12, MIM# 128235; Polymicrogyria; Developmental and epileptic encephalopathy

Publications

Created: 30 Mar 2021, 10:13 a.m.
Last Modified: 30 Mar 2021, 10:13 a.m.
Panel version: Imported from Mendeliome panel version 0.8268

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Onset of ataxia is usually in infancy or childhood.
Sources: Expert list
Created: 16 Apr 2020, 10:47 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alternating hemiplegia of childhood 2 MIM#614820; CAPOS syndrome MIM#601338

Created: 16 Apr 2020, 10:47 p.m.

Panel version: 0.85

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Alternating hemiplegia of childhood 2 MIM#614820
  • CAPOS syndrome MIM#601338
OMIM
182350
Clinvar variants
Variants in ATP1A3
Penetrance
None
Panels with this gene

History Filter Activity

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atp1a3 has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atp1a3 has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATP1A3 was added gene: ATP1A3 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATP1A3 were set to Alternating hemiplegia of childhood 2 MIM#614820; CAPOS syndrome MIM#601338 Review for gene: ATP1A3 was set to GREEN