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Genetic Epilepsy

Gene: ATP5E

Amber List (moderate evidence)

ATP5E (ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit)
EnsemblGeneIds (GRCh38): ENSG00000124172
EnsemblGeneIds (GRCh37): ENSG00000124172
OMIM: 606153, Gene2Phenotype
ATP5E is in 4 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Reviewed as included on the review list for genetic epilepsy
2/3 patients had seizures in the paper PMID 34954817
1 type not specified, the 2nd GTCS
1 patient in PMID: 22231385, no seizures
no new evidence
Sources: Expert list
Created: 11 Dec 2023, 2:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053
OMIM
606153
Clinvar variants
Variants in ATP5E
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp5e has been classified as Amber List (Moderate Evidence).

11 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp5e has been classified as Amber List (Moderate Evidence).

11 Dec 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: ATP5E was added gene: ATP5E was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: ATP5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5E were set to PMID: 34954817, PMID: 22231385 Phenotypes for gene: ATP5E were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Review for gene: ATP5E was set to AMBER