ATP5A1

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

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green ATP5A1 in Mitochondrial disorder with complex V deficiency Version 2.16 Latest signed off version: v2.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228 Combined oxidative phosphorylation deficiency 22, OMIM: 616045 Tags new-gene-name
Green ATP5A1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 22, OMIM: 616045 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228 Tags new-gene-name
Green ATP5A1 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228 Combined oxidative phosphorylation deficiency 22, OMIM: 616045 Tags new-gene-name
Green ATP5A1 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228 Combined oxidative phosphorylation deficiency 22, OMIM: 616045 Tags new-gene-name
Green ATP5A1 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATP5F1A-related mitochondrial encephalopathy, OMIM:615228 ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia Tags new-gene-name
Amber ATP5A1 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228 Combined oxidative phosphorylation deficiency 22, OMIM: 616045 Tags new-gene-name watchlist
Green ATP5A1 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228 Combined oxidative phosphorylation deficiency 22, OMIM: 616045 Tags new-gene-name