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  3. ATP1A3
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Intellectual disability syndromic and non-syndromic

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

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: 0.2968

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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
Progressive cognitive impairment can be a feature of this episodic neurological disorder, uncertain whether this is truly an intellectual disability disorder.
Created: 23 Nov 2019, 9 a.m. | Last Modified: 23 Nov 2019, 9 a.m.
Panel Version: 0.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alternating hemiplegia of childhood 2, MIM#614820; Developmental and epileptic encephalopathy, polymicrogyria

Publications

Created: 23 Nov 2019, 9 a.m.
Last Modified: 23 Nov 2019, 9 a.m.
Panel version: 0.3943

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Alternating hemiplegia of childhood 2, MIM#614820
  • Developmental and epileptic encephalopathy, polymicrogyria
OMIM
182350
Clinvar variants
Variants in ATP1A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP1A3 were changed from Alternating hemiplegia of childhood 2, MIM#614820 to Alternating hemiplegia of childhood 2, MIM#614820; Developmental and epileptic encephalopathy, polymicrogyria

8 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATP1A3 were set to

7 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp1a3 has been classified as Amber List (Moderate Evidence).

6 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP1A3 were changed from to Alternating hemiplegia of childhood 2, MIM#614820

6 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp1a3 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP1A3 was added gene: ATP1A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ATP1A3 was set to Unknown