Version 0.149
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review
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MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
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Sources
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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
Phenotypes
- ?Combined oxidative phosphorylation deficiency 16, 615395
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
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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
- ?Combined oxidative phosphorylation deficiency 16, 615395
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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
- Expert Review Green
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- ?Combined oxidative phosphorylation deficiency 16, 615395
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London South GLH
- Expert Review Green
- Expert Review Green
- London South GLH
Phenotypes
- ?Combined oxidative phosphorylation deficiency 16, 615395
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Amber
- Expert list
Phenotypes
- ?Combined oxidative phosphorylation deficiency 16, 615395
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