Mitochondrial disease
Gene: ATP5OEnsemblGeneIds (GRCh38): ENSG00000241837
EnsemblGeneIds (GRCh37): ENSG00000241837
OMIM: 600828, Gene2Phenotype
ATP5O is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
4 individuals from three unrelated families reported. Onset in infancy. Features included intrauterine growth retardation, hypotonia, neonatal respiratory distress, and global developmental delay, seizures.
Sources: LiteratureCreated: 6 May 2023, 7:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359
- OMIM
- 600828
- Clinvar variants
- Variants in ATP5O
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp5o has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp5o has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATP5O was added gene: ATP5O was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5O were set to 34954817; 35621276 Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 Review for gene: ATP5O was set to GREEN