Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.39
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Leigh syndrome due to mitochondrial complex I deficiency 256000
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Version 3.8
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
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Mitochondrial complex I deficiency, nuclear type 17, 612392
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Leigh syndrome due to mitochondrial complex I deficiency, 256000
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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
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Leigh syndrome due to mitochondrial complex I deficiency, 256000
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Isolated complex I deficiency
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Version 3.105
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Mitochondrial complex I deficiency, nuclear type 17, 612392
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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
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
Phenotypes
- Isolated complex I deficiency
- Leigh syndrome due to mitochondrial complex I deficiency, 256000
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Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
Phenotypes
- Leigh syndrome due to mitochondrial complex I deficiency
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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 Red
- MetBioNet
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Mitochondrial complex I deficiency, nuclear type 17, 612392
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PanelApp
- Expert Review Green
- London North GLH
Phenotypes
- Leigh syndrome due to mitochondrial complex I deficiency 256000
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Mitochondrial complex I deficiency, nuclear type 17, 618239
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