Version 3.31
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Mitochondrial complex III deficiency, nuclear type 8
- leukoencephalopathy and complex III deficiency
- 615838
- severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle
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Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.179
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Mitochondrial complex III deficiency, nuclear type 8
- 615838
- leukoencephalopathy and complex III deficiency
- severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle
|
Version 2.5
Latest signed off version: v2.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial complex III deficiency, nuclear type 8, 615838
|
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
- Expert Review Green
- Expert Review Green
Phenotypes
- Mitochondrial complex III deficiency, nuclear type 8
- Isolated complex III deficiency
- severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle
- leukoencephalopathy and complex III deficiency
- 615838
|
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 III deficiency, nuclear type 8, 615838
|
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 Green
- Expert list
Phenotypes
- Mitochondrial complex III deficiency, nuclear type 8, MIM#615838
|
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
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert list
- Expert
Phenotypes
- Isolated complex III deficiency
- Mitochondrial complex III deficiency, nuclear type 8
- 615838
- leukoencephalopathy and complex III deficiency
- severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle
|
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 Red
- MetBioNet
- NHS GMS
Phenotypes
- Mitochondrial complex III deficiency, nuclear type 8, 615838
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Mitochondrial complex III deficiency, nuclear type 8, 615838
|