NDUFS7

NADH:ubiquinone oxidoreductase core subunit S7
OMIM: 601825
PanelMode of inheritanceDetails
8 panels
R-numbers: R57
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 3, 618224
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, 256000, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES)
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
R-numbers: R353
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 3, 618224
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
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 3, 618224
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genetic leukoencephalopathies: mitochondrial disorders, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Leigh syndrome, Mitochondrial Leukoencephalopathy, Mitochondrial respiratory chain complex I deficiency