NDUFA10

NADH:ubiquinone oxidoreductase subunit A10
OMIM: 603835
PanelMode of inheritanceDetails
7 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 22, 618243
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome 256000
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, 256000
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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
R-numbers: R353
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 22, 618243
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex I deficiency, Leigh syndrome, 256000, Mitochondrial Diseases, Mitochondrial Respiratory Chain Complex I Deficiency
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 22, 618243