Genomics England

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

Panel	Mode of inheritance	Details
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Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 7.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053, mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547
Green in Mitochondrial disorder with complex V deficiency R-numbers: R357 Signed-off version 2.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053, mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053, mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.113	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053, mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547