Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 53, OMIM:619423
Tags
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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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
- Combined oxidative phosphorylation deficiency 53, OMIM:619423
Tags
|
Version 3.106
Latest signed off version: v3.105
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Literature
- Expert Review Amber
Phenotypes
- Combined oxidative phosphorylation deficiency 53, OMIM:619423
- combined oxidative phosphorylation deficiency 53, MONDO:0030378
Tags
- gene-checked
- Q2_23_promote_green
- Q3_23_NHS_review
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.6
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
- Expert Review Green
- NHS GMS
- Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 53, OMIM:619423
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
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
- Expert Review Green
- NHS GMS
- Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 53, OMIM:619423
Tags
|
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
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 53, OMIM:619423
Tags
|