NDUFA2

NADH:ubiquinone oxidoreductase subunit A2
OMIM: 602137
PanelMode of inheritanceDetails
7 panels
R-numbers: R135
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 13, 618235
R-numbers: R57
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 13
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome due to mitochondrial complex I deficiency, 256000, Mitochondrial Diseases, Isolated complex I deficiency, Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits), Mitochondrial Respiratory Chain Complex I Deficiency
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 13, MIM#618235
R-numbers: R353
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 13, 618235
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex I deficiency, Leigh syndrome due to mitochondrial complex I deficiency, 256000, Mitochondrial Diseases, Mitochondrial Respiratory Chain Complex I Deficiency
R-numbers: R63
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 13, 618235