Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Expert Review
- Expert list
Phenotypes
- Coenzyme Q10 deficiency, primary, 7, OMIM:616276
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Tags
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Coenzyme Q10 deficiency, primary, 7, OMIM:616276
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Coenzyme Q10 deficiency, primary, 7, OMIM:616276
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Coenzyme Q10 deficiency, primary, 7, OMIM:616276
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Version 3.106
Latest signed off version: v3.105
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Coenzyme Q10 deficiency, primary, 7, 616276
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- COENZYME Q10 DEFICIENCY, PRIMARY, 7
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- COENZYME Q10 DEFICIENCY, PRIMARY, 7 616276
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Coenzyme Q10 deficiency, primary, 7 616276
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
Phenotypes
- COENZYME Q10 DEFICIENCY, PRIMARY, 7
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 6.4
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
Phenotypes
- Coenzyme Q10 deficiency, primary, 7, OMIM:616276
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Literature
Phenotypes
- Coenzyme Q10 deficiency, primary, 7, OMIM:616276
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Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Coenzyme Q10 deficiency, primary, 7, OMIM:616276
- neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, MONDO:0014562
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
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Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Coenzyme Q10 deficiency, primary, 7, 616276
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.18
Latest signed off version: v1.7
(31 May 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Rhabdomyolysis
- Coenzyme Q10 deficiency, primary, 7, OMIM:616276
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