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
- Victorian Clinical Genetics Services
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 35, OMIM :617873
- combined oxidative phosphorylation deficiency 35, MONDO:0054742
Tags
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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 35, OMIM:617873
- combined oxidative phosphorylation deficiency 35, MONDO:0054742
Tags
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Version 3.164
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
Phenotypes
- Combined oxidative phosphorylation deficiency 35, OMIM:617873
- combined oxidative phosphorylation deficiency 35, MONDO:0054742
Tags
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Version 3.88
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
- tRNA isopentenyltransferase deficiency
Tags
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
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
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Combined oxidative phosphorylation deficiency 35, OMIM:617873
- combined oxidative phosphorylation deficiency 35, MONDO:0054742
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Expert Review Green
Phenotypes
- Combined oxidative phosphorylation deficiency 35, OMIM:617873
- combined oxidative phosphorylation deficiency 35, MONDO:0054742
Tags
|
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
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert list
- Expert
- Radboud University Medical Center, Nijmegen
Phenotypes
- Combined oxidative phosphorylation deficiency 35, OMIM:617873
- combined oxidative phosphorylation deficiency 35, MONDO:0054742
Tags
|
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 35, 617873
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