Genomics England

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Leber hereditary optic neuropathy R-numbers: R41.3, R42.1 Signed-off version 2.5	MITOCHONDRIAL	Phenotypes severe infantile-onset complex I deficiency, Nystagmus, Leber hereditary optic neuropathy
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	MITOCHONDRIAL	Phenotypes MELAS SYNDROME, STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA, LEBER OPTIC ATROPHY AND DYSTONIA, LEBER OPTIC ATROPHY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.114	MITOCHONDRIAL	Phenotypes LEBER OPTIC ATROPHY, LEBER OPTIC ATROPHY AND DYSTONIA, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, MELAS SYNDROME, STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
Green in NARP syndrome or maternally inherited Leigh syndrome R-numbers: R351 Signed-off version 1.0	MITOCHONDRIAL	Phenotypes
Green in Optic neuropathy R-numbers: R41 Signed-off version 4.0	MITOCHONDRIAL	Phenotypes Leber hereditary optic neuropathy, Nystagmus, severe infantile-onset complex I deficiency