TACO1

translational activator of cytochrome c oxidase I
OMIM: 612958
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY 256000
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
Mitochondrial Diseases, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), ?Mitochondrial complex IV deficiency, 220110, Isolated complex IV deficiency, Mitochondrial Respiratory Chain Complex IV Deficiency, Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
R-numbers: R356
Signed-off version 3.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, 220110
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.114
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex IV deficiency, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), ?Mitochondrial complex IV deficiency, 220110, Mitochondrial Diseases, Mitochondrial Respiratory Chain Complex IV Deficiency
R-numbers: R63
Signed-off version 3.69
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, 220110
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 3.24
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial Leukoencephalopathy