Version 4.1
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Tags
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Version 3.21
Latest signed off version: v3.20
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Tags
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
- Isolated complex IV deficiency
Tags
|
Version 5.1
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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
- Isolated complex IV deficiency
Tags
|
Version 3.106
Latest signed off version: v3.105
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Tags
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- MITOCHONDRIAL COMPLEX IV DEFICIENCY
Tags
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
Tags
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.40
Latest signed off version: v4.39
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
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
- Victorian Clinical Genetics Services
- Expert Review Green
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Tags
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 6.1
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
- Isolated complex IV deficiency
Tags
|
Version 4.1
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 Red
- MetBioNet
- NHS GMS
Phenotypes
- Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Mitochondrial complex IV deficiency, 220110
Tags
|