Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
|
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
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
- Combined oxidative phosphorylation deficiency 12
|
Version 3.24
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- Combined oxidative phosphorylation deficiency 12, 614924
|
Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.179
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Combined oxidative phosphorylation deficiency 12
|
Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
Unknown
|
Sources
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Red
Phenotypes
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 12, 614924
|
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
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Combined oxidative phosphorylation deficiency 12, 614924
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
|
Version 3.103
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Combined oxidative phosphorylation deficiency 12, 614924
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Combined oxidative phosphorylation deficiency 12, OMIM:614924
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Combined oxidative phosphorylation deficiency 12, 614924
- Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
- Drug-refractory seizures
- Epilepsy
|
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
- Combined oxidative phosphorylation deficiency 12, MIM#614924
|
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
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 12, 614924
|
Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
- Combined oxidative phosphorylation deficiency 12, 614924
- Dystonia
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- South West GLH
- Expert Review Red
- London North GLH
Phenotypes
- Combined oxidative phosphorylation deficiency 12, 614924
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Combined oxidative phosphorylation deficiency 12, 614924
|