COQ2

coenzyme Q2, polyprenyltransferase
OMIM: 609825
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COENZYME Q10 DEFICIENCY 607426
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 1 607426
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
{Multiple system atrophy, susceptibility to}, 146500, Coenzyme Q10 deficiency, Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Disorders of ubiquinone metabolism and biosynthesis, Coenzyme Q10 deficiency, primary, 1, 607426
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of ubiquinone metabolism and biosynthesis, Coenzyme Q10 deficiency, primary, 1, 607426, Coenzyme Q10 deficiency, {Multiple system atrophy, susceptibility to}, 146500
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 1, 607426
R-numbers: R195
Signed-off version 2.32
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 1 #607426
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 1 301050
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy, Mitochondrial Leukoencephalopathy, Coenzyme Q10 deficiency, primary, 1