Genomics England
GMS Panels
Panels
Genes and Entities

NDUFA1

NADH:ubiquinone oxidoreductase subunit A1
OMIM: 300078
PanelMode of inheritanceDetails
8 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mitochondrial complex I deficiency 252010
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010
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 7.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mitochondrial complex I deficiency, 252010
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mitochondrial complex I deficiency, 252010, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES)
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 7.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mitochondrial complex I deficiency, 252010, Mitochondrial Diseases, Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits), Isolated complex I deficiency
Green
in Mitochondrial disorder with complex I deficiency
R-numbers: R353
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mitochondrial complex I deficiency, nuclear type 12, 301020
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Isolated complex I deficiency, Mitochondrial complex I deficiency, 252010, Mitochondrial Diseases
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.105
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mitochondrial complex I deficiency, nuclear type 12, 301020