COQ4

No list COQ4 in Ataxia and cerebellar anomalies - narrow panel

Version 2.300
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

Sources

• Literature

Phenotypes

• Childhood onset ataxia

Green COQ4 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

Sources

• Expert Review Green
• Literature

Phenotypes

• Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
• Coenzyme Q10 deficiency, primary, 7
• Disorders of ubiquinone metabolism and biosynthesis

Green COQ4 in Inborn errors of metabolism

Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
• Disorders of ubiquinone metabolism and biosynthesis
• Coenzyme Q10 deficiency, primary, 7

Green COQ4 in Possible mitochondrial disorder - nuclear genes

Version 1.94
Latest signed off version: v1.17 (11 Nov 2020)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Coenzyme Q10 deficiency, primary, 7, 616276

Green COQ4 in Fetal anomalies

Version 1.900
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• Expert Review Green
• PAGE DD-Gene2Phenotype

Phenotypes

• COENZYME Q10 DEFICIENCY, PRIMARY, 7

Amber COQ4 in DDG2P

Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Amber

Phenotypes

• COENZYME Q10 DEFICIENCY, PRIMARY, 7 616276

Green COQ4 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.563
Latest signed off version: v2.2 (13 Feb 2020)

Sources

• Wessex and West Midlands GLH
• NHS GMS
• Expert Review Green
• Victorian Clinical Genetics Services

Phenotypes

• Coenzyme Q10 deficiency, primary, 7 616276

Green COQ4 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1659
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Green

Phenotypes

• COENZYME Q10 DEFICIENCY, PRIMARY, 7

Green COQ4 in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 2.117
Latest signed off version: v2.4 (17 Feb 2020)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Green
• Radboud University Medical Center, Nijmegen
• Expert list
• Expert

Phenotypes

• Coenzyme Q10 deficiency, primary, 7
• Disorders of ubiquinone metabolism and biosynthesis

Red COQ4 in Childhood onset dystonia or chorea or related movement disorder

Version 1.241
Latest signed off version: v1.137 (5 Aug 2021)

Sources

• Expert Review Red
• London North GLH

Green COQ4 in Severe Paediatric Disorders

Version 1.127

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Coenzyme Q10 deficiency, primary, 7, 616276

Green COQ4 in Acute rhabdomyolysis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 0.10

Sources

• Expert Review Green
• NHS GMS

Phenotypes

• Rhabdomyolysis
• Coenzyme Q10 deficiency, primary, 7, OMIM:616276