ATP5E

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
OMIM: 606153, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red ATP5E in Hypertrophic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 4.7 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event	review	Unknown	Sources South West GLH Expert list Phenotypes syndromic HCM Tags new-gene-name
Amber ATP5E in Mitochondrial disorder with complex V deficiency Version 2.16 Latest signed off version: v2.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053 mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 Tags new-gene-name Q4_23_promote_green
Green ATP5E in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053 mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 Tags new-gene-name
Amber ATP5E 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053 mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 Tags new-gene-name Q4_23_promote_green
Amber ATP5E in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053 mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 Tags watchlist Q1_24_promote_green Q1_24_NHS_review
Amber ATP5E 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053 mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 Tags new-gene-name Q4_23_promote_green