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
- Expert Review Green
- NHS GMS
- Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 57, OMIM:620167
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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
- Expert Review Amber
- Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 57, OMIM:620167
Tags
- Q1_23_promote_green
- Q3_23_NHS_review
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- DD-Gene2Phenotype
Phenotypes
- CRLS1-related mitochondrial disorder
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 57, OMIM:620167
Tags
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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
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 57, OMIM:620167
|
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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 57, OMIM:620167
|