Ataxia - adult onset
Gene: ATP1A3

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: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.85

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert list
Royal Melbourne Hospital
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

CAPOS syndrome, 601338
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338)
Dystonia-12, 128235
Alternating hemiplegia of childhood 2, 614820
DYSTONIA 12, 128235
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820
Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)

OMIM

182350

Clinvar variants

Variants in ATP1A3

Penetrance

None

Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

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 - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATP1A3 were set to CAPOS syndrome, 601338; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338); Dystonia-12, 128235; Alternating hemiplegia of childhood 2, 614820; DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)

Ataxia - adult onset Gene: ATP1A3