NDUFS6

NADH:ubiquinone oxidoreductase subunit S6
OMIM: 603848
PanelMode of inheritanceDetails
5 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 9, 618232
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
Mitochondrial Diseases, Isolated complex I deficiency, Complex I, mitochondrial respiratory chain, deficiency of, 252010, 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 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 9, 618232
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, Complex I, mitochondrial respiratory chain, deficiency of, 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 9, 618232