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
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Retinal disorders
- Infantile nystagmus
- Optic neuropathy
- Skeletal muscle channelopathy
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- NARP syndrome or maternally inherited Leigh syndrome
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Albinism or congenital nystagmus
- Hereditary ataxia
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic 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