Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 39, OMIM:618397
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Version 4.134
Latest signed off version: v4.0
(22 Mar 2023)
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
- Expert Review Green
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Combined oxidative phosphorylation deficiency 39, OMIM:618397
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Version 3.103
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Combined oxidative phosphorylation deficiency 39, OMIM:618397
- Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Combined oxidative phosphorylation deficiency 39, OMIM:618397
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.167
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert list
Phenotypes
- Combined oxidative phosphorylation deficiency 39, OMIM:618397
- Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
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Version 1.182
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Combined oxidative phosphorylation deficiency 39, 618397
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