ATP5A1

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
OMIM: 164360, Gene2Phenotype

Panel	Reviews	Mode of inheritance	Details
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Amber ATP5A1 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 22 616045 Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 Tags new gene name
Amber ATP5A1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Combined oxidative phosphorylation deficiency 22 616045 Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 Tags new gene name
Amber ATP5A1 in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 22 616045 Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 Mitochondrial disorder, autosomal dominant Tags new gene name

3 panels