This Panel is marked as Internal
Dystonia - childhood onset
Gene: MT-ATP6
MT-ATP6 (mitochondrially encoded ATP synthase 6)
EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels
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Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- OMIM
- 516060
- Clinvar variants
- Variants in MT-ATP6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Infantile nystagmus
- Adult onset neurodegenerative disorder
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Skeletal muscle channelopathy
- Retinal disorders
- Optic neuropathy
- Paroxysmal central nervous system disorders
- Mitochondrial disorders
- NARP syndrome or maternally inherited Leigh syndrome
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Albinism or congenital nystagmus
- Adult onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Hereditary ataxia
- Skeletal Muscle Channelopathies
- Hereditary neuropathy
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications
Eleanor Williams (Genomics England Curator)gene: MT-ATP6 was added gene: MT-ATP6 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL Publications for gene: MT-ATP6 were set to 1550128; 11916326