Skeletal muscle channelopathy
Gene: MT-ATP6EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels
1 review
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Can resemble skeletal muscle channelopathy
Publications
- Aure et al 2013 Neurology 81, 1810-8 PMID:24153443
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- NHS GMS
- Expert Review Green
- London North GLH
- Phenotypes
-
- Can resemble skeletal muscle channelopathy
- Tags
- OMIM
- 516060
- Clinvar variants
- Variants in MT-ATP6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary neuropathy or pain disorder
- Hereditary ataxia, adult onset
- Undiagnosed metabolic disorders
- Infantile nystagmus
- Hereditary ataxia
- Neurodegenerative disorders, adult onset
- Skeletal muscle channelopathy
- Ataxia and cerebellar anomalies - childhood onset
- Intellectual disability
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Albinism or congenital nystagmus
- Retinal disorders
- NARP syndrome or maternally inherited Leigh syndrome
- Mitochondrial disorders
- Skeletal Muscle Channelopathies
- Optic neuropathy
- Paroxysmal central nervous system disorders
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: MT-ATP6.
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene MT-ATP6 were changed from to 24153443
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MT-ATP6.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Can resemble skeletal muscle channelopathy for gene: MT-ATP6
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to MT-ATP6. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: MT-ATP6 was added gene: MT-ATP6 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL