Genomics England

NDUFV2

NADH:ubiquinone oxidoreductase core subunit V2

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229
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	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229, Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Green in Mitochondrial disorder with complex I deficiency R-numbers: R353 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 7, 618229
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.114	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 3.44	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 7, 618229
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.69	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 7, 618229