Genomics England

ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9)

Panel	Mode of inheritance	Details
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Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
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 6.14	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
Green in Mitochondrial disorder with complex V deficiency R-numbers: R357 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681