Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Myopathy with lactic acidosis, hereditary, OMIM:255125
Tags
- non-coding-known-pathogenic
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0
(1 May 2024)
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review
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Not set
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Myopathy with lactic acidosis, hereditary, 255125
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Myopathy with lactic acidosis, hereditary, OMIM:255125
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Rhabdomyolysis and metabolic muscle disorders
Tags
- non-coding-known-pathogenic
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Version 5.3
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
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review Green
- London North GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Myopathy with lactic acidosis, hereditary, 255125
- Disorders of iron homeostasis
- Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Rhabdomyolysis and metabolic muscle disorders
Tags
- non-coding-known-pathogenic
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Version 3.106
Latest signed off version: v3.105
(1 May 2024)
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Myopathy with lactic acidosis, hereditary, 255125
Tags
- founder-effect
- non-coding-known-pathogenic
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 6.4
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
Phenotypes
- Disorders of iron homeostasis
- Myopathy with lactic acidosis, hereditary, 255125
Tags
- non-coding-known-pathogenic
- founder-effect
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Myopathy with lactic acidosis, hereditary, 255125
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.18
Latest signed off version: v1.7
(31 May 2023)
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Myopathy with lactic acidosis, hereditary, OMIM:255125
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