Level 3: Clinical trials
Level 2: Actionable information
Version 0.9
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review
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Not set
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Sources
- Expert Review Green
- ClinicalTrials.gov
Phenotypes
- Optic, Atrophy, Hereditary, Leber
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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
Tags
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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MITOCHONDRIAL
|
Sources
- London North GLH
- Expert Review Green
- UKGTN
Phenotypes
- Leber's hereditary optic neuropathy
Tags
- gene-therapy-trial
- gene-checked
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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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MITOCHONDRIAL
|
Sources
Phenotypes
- LEBER OPTIC ATROPHY
- MELAS SYNDROME
- LEBER OPTIC ATROPHY AND DYSTONIA
- MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
- gene-therapy-trial
- gene-checked
|
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
|
Sources
Phenotypes
- MELAS SYNDROME
- LEBER OPTIC ATROPHY AND DYSTONIA
- LEBER OPTIC ATROPHY
- MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
|
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 Red
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Mitochondrial complex I deficiency
- autism spectrum disorder
- intellectual disability
Tags
|
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
- MELAS SYNDROME
- LEBER OPTIC ATROPHY AND DYSTONIA
- MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
- gene-therapy-trial
- gene-checked
|
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
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MITOCHONDRIAL
|
Sources
- Expert Review Removed
- London North GLH
Phenotypes
- Leber Optic Atrophy And Dystonia
Tags
|
Version 1.184
|
review
|
MITOCHONDRIAL
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- LEBER OPTIC ATROPHY
- LEBER OPTIC ATROPHY AND DYSTONIA
- MITOCHONDRIAL COMPLEX I DEFICIENCY
- MELAS SYNDROME
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