Genomics England

NDUFA10

NADH:ubiquinone oxidoreductase subunit A10

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leigh syndrome 256000
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LEIGH SYNDROME DUP 256000
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 R-numbers: R59 Signed-off version 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leigh syndrome, 256000
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial Diseases, Isolated complex I deficiency, Leigh syndrome, 256000, Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits), Mitochondrial Respiratory Chain Complex I Deficiency
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 22, 618243
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Isolated complex I deficiency, Leigh syndrome, 256000, Mitochondrial Diseases, Mitochondrial Respiratory Chain Complex I Deficiency
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex I deficiency, nuclear type 22, 618243