Genomics England
GMS Panels
Panels
Genes and Entities

NDUFA9

NADH:ubiquinone oxidoreductase subunit A9
OMIM: 603834
PanelMode of inheritanceDetails
4 panels
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
Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits), Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3, Isolated complex I deficiency, Mitochondrial complex I deficiency, nuclear type 26, 618247, Leigh syndrome due to mitochondrial complex I deficiency, 256000
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 26, 618247
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 26, 618247
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 26, 618247