Fetal anomalies
Gene: ATP1A3

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

3 reviews

Chloe Stutterd (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: Literature
Created: 30 Mar 2021, 4:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polymicrogyria; epilepsy; developmental delay

Publications

PMID: 33762331

Created: 30 Mar 2021, 4:22 a.m.

Panel version: Imported from Polymicrogyria and Schizencephaly panel version 0.157

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

four additional patients with dystonia, dysmorphism of the face, encephalopathy with developmental delay, brain MRI abnormalities always including cerebellar hypoplasia, no hemiplegia (Ø) (D-DEMØ), and neonatal onset. All are described to have global developmental delay. All had de-novo missense variants.

DOI: https://doi.org/10.1212/NXG.0000000000000466
Created: 7 Sep 2020, 5:40 a.m. | Last Modified: 7 Sep 2020, 5:40 a.m.

Panel Version: 0.2968

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 7 Sep 2020, 5:40 a.m.
Last Modified: 7 Sep 2020, 5:40 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2968

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Individuals with PMG reported.
Created: 29 Dec 2021, 9 p.m. | Last Modified: 29 Dec 2021, 9 p.m.

Panel Version: 0.1635

PMID 33880529: 16 individuals reported with DD/EE and PMG.
Created: 8 Jul 2021, 3:39 a.m. | Last Modified: 8 Jul 2021, 3:39 a.m.

Panel Version: 0.3943

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 99, MIM# 619606; Polymicrogyria

Publications

Created: 23 Nov 2019, 9 a.m.
Last Modified: 23 Nov 2019, 9 a.m.
Panel version: 0.1635

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Developmental and epileptic encephalopathy 99, MIM# 619606
Polymicrogyria

OMIM

182350

Clinvar variants

Variants in ATP1A3

Penetrance

None

Publications

Panels with this gene