Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 604273
|
Version 3.35
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Mitochondrial complex V disorders
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Mitochondrial Leukoencephalopathy
|
Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert list
Phenotypes
- Mitochondrial Leukoencephalopathy
- Mitochondrial complex V disorders
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
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Version 2.16
Latest signed off version: v2.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex V deficiency
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
- Mitochondrial Diseases
|
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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
- Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Mitochondrial Diseases
- Isolated complex V deficiency
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
|
Version 3.105
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
|
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
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
Phenotypes
- Isolated complex V deficiency
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
- Mitochondrial Diseases
Tags
|
Version 3.47
Latest signed off version: v3.0
(22 Mar 2023)
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
- MetBioNet
- NHS GMS
Phenotypes
- ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
|
Version 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Amber
- Expert list
Phenotypes
- ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
|