Genomics England

ATP5O

ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit

Panel	Mode of inheritance	Details
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Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Green in Mitochondrial disorder with complex V deficiency R-numbers: R357 Signed-off version 3.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359