NDUFS4

NADH:ubiquinone oxidoreductase subunit S4
OMIM: 602694
PanelMode of inheritanceDetails
10 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 1, 252010
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency 252010, Leigh syndrome 256000
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010, LEIGH SYNDROME 256000, LEIGH SYNDROME DUP 256000
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome 256000, Mitochondrial complex I deficiency 252010
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
Leigh syndrome, 256000, Mitochondrial complex I deficiency, 252010, 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 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES)
R-numbers: R353
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 1, 252010
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 complex I deficiency, 252010, 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 1, 252010
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, Mitochondrial complex I disorders, Mitochondrial Leukoencephalopathy, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY