Version 2.9
Latest signed off version: v2.5
(22 Mar 2023)
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review
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MITOCHONDRIAL
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Sources
- Expert List
- Expert Review Green
Phenotypes
- Leber's hereditary optic neuropathy
- External ophthalmoplegia
- Optic neuropathy and nystagmus
Tags
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Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.15
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review
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MITOCHONDRIAL
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Sources
- Expert Review Removed
- Literature
- Other
Phenotypes
- Sudden infant death syndrome, 272120
- SIDS
- SIDS
- sudden infant death syndrome, 272120,
Tags
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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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MITOCHONDRIAL
|
Sources
- Expert Review Green
- Literature
Tags
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Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
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review
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MITOCHONDRIAL
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Sources
- London North GLH
- Expert Review Green
- UKGTN
Phenotypes
- Optic neuropathy and nystagmus
- External ophthalmoplegia
- Leber's hereditary optic neuropathy
Tags
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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MITOCHONDRIAL
|
Sources
Phenotypes
- LEBER OPTIC ATROPHY
- SUDDEN INFANT DEATH SYNDROME
- MITOCHONDRIAL COMPLEX I DEFICIENCY
- DYSTONIA, ADULT-ONSET
- MELAS SYNDROME
- DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
Tags
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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
|
review
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MITOCHONDRIAL
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Sources
Phenotypes
- MELAS SYNDROME
- MITOCHONDRIAL COMPLEX I DEFICIENCY
- LEBER OPTIC ATROPHY
- DYSTONIA, ADULT-ONSET
- DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
- SUDDEN INFANT DEATH SYNDROME
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MITOCHONDRIAL
|
Sources
- Expert Review Red
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Leber optic atrophy
- Sudden infant death syndrome
- Mitochondrial complex I deficiency
- Dystonia, adult-onset
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome
- MELAS syndrome
- Deafness, nonsyndromic sensorineural, mitochondrial
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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
|
MITOCHONDRIAL
|
Sources
- Expert Review Green
- UKGTN
Phenotypes
- LEBER OPTIC ATROPHY
- SUDDEN INFANT DEATH SYNDROME
- MITOCHONDRIAL COMPLEX I DEFICIENCY
- DYSTONIA, ADULT-ONSET
- MELAS SYNDROME
- DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
Tags
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MITOCHONDRIAL
|
Sources
- NHS GMS
- Expert Review Red
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Version 3.19
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
MITOCHONDRIAL
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MITOCHONDRIAL
|
Sources
- Expert Review Removed
- London North GLH
Phenotypes
- MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3
Tags
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Version 1.184
|
review
|
MITOCHONDRIAL
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- MELAS
- LEBER OPTIC ATROPHY
- MITOCHONDRIAL COMPLEX I DEFICIENCY
- ALZHEIMER DISEASE
- SIDS
- DYSTONIA, ADULT-ONSET
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