Skeletal Muscle Channelopathies
Gene: MT-ATP6EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Mutations in this gene can cause an overlapping phenotypeCreated: 21 Feb 2017, 1:51 p.m.
This gene was suggested by expert Dr Matthews, as can cause an overlapping phenotypeCreated: 21 Feb 2017, 1:31 p.m.
Mode of inheritance
MITOCHONDRIAL
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- Expert Review
- Tags
- OMIM
- 516060
- Clinvar variants
- Variants in MT-ATP6
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- Hereditary ataxia, adult onset
- Likely inborn error of metabolism
- Retinal disorders
- Dystonia, chorea or related movement disorder, adult onset
- Undiagnosed metabolic disorders
- Infantile nystagmus
- Optic neuropathy
- Intellectual disability
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
- Skeletal muscle channelopathy
- Hereditary neuropathy or pain disorder
- Paroxysmal central nervous system disorders
- Neurodegenerative disorders, adult onset
- Hereditary neuropathy
- Albinism or congenital nystagmus
- Dystonia, chorea or related movement disorder, childhood onset
- NARP syndrome or maternally inherited Leigh syndrome
- Skeletal Muscle Channelopathies
- Mitochondrial 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.
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Arianna Tucci (Genomics England Curator)MT-ATP6 was added to Skeletal Muscle Channelopathiespanel. Sources: Expert Review
Created
Arianna Tucci (Genomics England Curator)MT-ATP6 was created by arianna