Mitochondrial disease
Gene: ATP5EEnsemblGeneIds (GRCh38): ENSG00000124172
EnsemblGeneIds (GRCh37): ENSG00000124172
OMIM: 606153, Gene2Phenotype
ATP5E is in 4 panels
3 reviews
Ain Roesley (Victorian Clinical Genetics Services)
2 additional probands with the same Tyr12Cys variant.
Including the previous paper,
3/3 with dev delay. 2/3 with ID (the other NA)
3/3 with muscular hypotonia
2/3 with dystonia / ataxia
2/3 with seizures
2/3 with peripheral neuropathyCreated: 2 Feb 2022, 12:02 a.m. | Last Modified: 2 Feb 2022, 12:02 a.m.
Panel Version: 0.688
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: HGNC approved name ATP5F1E.Created: 3 May 2020, 3:44 a.m. | Last Modified: 3 May 2020, 3:44 a.m.
Panel Version: 0.445
Bryony Thompson (Royal Melbourne Hospital)
Only one case reported in the literature. The mouse knockout is embryonic lethal and knockdown in HEK293 cells leads to down-regulation of the mitochondrial ATP synthase complex.Created: 26 Feb 2020, 4:53 a.m. | Last Modified: 26 Feb 2020, 4:53 a.m.
Panel Version: 0.90
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 Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Phenotypes
-
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053
- Tags
- OMIM
- 606153
- Clinvar variants
- Variants in ATP5E
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: ATP5E were set to 20566710; 27626380; 20026007
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atp5e has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp5e has been classified as Amber List (Moderate Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag new gene name tag was added to gene: ATP5E.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp5e has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATP5E were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATP5E were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ATP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atp5e has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATP5E was added gene: ATP5E was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: ATP5E was set to Unknown