Version 4.137
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
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 30, 616974
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Version 3.105
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
- Expert Review Green
- NHS GMS
Phenotypes
- Combined oxidative phosphorylation deficiency 30, 616974
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Version 3.169
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
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
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Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.169
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
- NHS GMS
- Victorian Clinical Genetics Services
- Expert list
Phenotypes
- Combined oxidative phosphorylation deficiency 30, 616974
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Version 1.184
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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 30, 616974
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