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Genetic Epilepsy

Gene: ATP11A

Amber List (moderate evidence)

ATP11A (ATPase phospholipid transporting 11A)
EnsemblGeneIds (GRCh38): ENSG00000068650
EnsemblGeneIds (GRCh37): ENSG00000068650
OMIM: 605868, Gene2Phenotype
ATP11A is in 7 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

PMID: 40185629 - Two chinese individuals reported with refractory focal epilepsy

De novo missense variants were identified in the two unrelated probands of chinese descent
Case 1 - female patient experiencing epileptic seizures from the age of 4 - Lys812Ile
Case 2 - male patient experienceing epileptic seizures from the age of 7 - Trp1036Cys
Sources: Other
Created: 8 Apr 2025, 10:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Focal Epilepsy MONDO:0005384

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Focal Epilepsy MONDO:0005384
OMIM
605868
Clinvar variants
Variants in ATP11A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Apr 2025, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atp11a has been classified as Amber List (Moderate Evidence).

9 Apr 2025, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atp11a has been classified as Amber List (Moderate Evidence).

8 Apr 2025, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: ATP11A was added gene: ATP11A was added to Genetic Epilepsy. Sources: Other Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP11A were set to 40185629 Phenotypes for gene: ATP11A were set to Focal Epilepsy MONDO:0005384 Review for gene: ATP11A was set to AMBER