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
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, OMIM:617710
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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
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Sources
- Expert Review Green
- Expert Review Green
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710
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Version 3.105
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710
|
Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, OMIM:617710
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
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
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review
- Expert Review Green
- Expert Review Green
- Expert Review
- Literature
Phenotypes
- Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
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
- Expert Review Green
- Expert Review
- Literature
Phenotypes
- Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.168
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
- Expert list
Phenotypes
- Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710
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