COQ7

coenzyme Q7, hydroxylase
OMIM: 601683
PanelMode of inheritanceDetails
4 panels
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Coenzyme Q10 deficiency, primary, 8, OMIM:616733
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Coenzyme Q10 deficiency, primary, 8 616733
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Coenzyme Q10 deficiency, primary, 8 616733, complex multisystem presentation
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Coenzyme Q10 deficiency, primary, 8 616733