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 Red
- Literature
Phenotypes
- Leigh syndrome due to mitochondrial complex I deficiency 256000
- Mitochondrial complex I deficiency 252010
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Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.24
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- London North GLH
Phenotypes
- Mitochondrial complex I deficiency, nuclear type 8, 618230
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Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial complex I deficiency, nuclear type 8, 618230
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Isolated complex I deficiency
- Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
|
Version 4.134
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 Diseases
- Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
- Isolated complex I deficiency
- Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
- Mitochondrial Respiratory Chain Complex I Deficiency
|
Version 3.103
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial complex I deficiency, nuclear type 8, 618230
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
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
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Leigh syndrome due to mitochondrial complex I deficiency
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.167
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
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
Phenotypes
- Isolated complex I deficiency
- Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
|
Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
- Leigh syndrome due to mitochondrial complex I deficiency 256000
- Mitochondrial complex I deficiency
- Mitochondrial complex I deficiency, nuclear type 8, 618230
|
Version 3.43
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 I deficiency, nuclear type 8, 618230
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PanelApp
- South West GLH
- Expert Review Red
- London North GLH
Phenotypes
- Mitochondrial complex I deficiency, nuclear type 8, 618230
- Mitochondrial complex I deficiency 252010
- Leigh syndrome due to mitochondrial complex I deficiency 256000
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Mitochondrial complex I deficiency, nuclear type 8, 618230
|