Mitochondrial disorders
Gene: MT-ATP6EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels
3 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Two reviewers agree this should be promoted from amber.Created: 8 Feb 2016, 2:08 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Tags
- OMIM
- 516060
- Clinvar variants
- Variants in MT-ATP6
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Structural basal ganglia disorders
- Ataxia and cerebellar anomalies - childhood onset
- Undiagnosed metabolic disorders
- Infantile nystagmus
- Hereditary ataxia
- Skeletal muscle channelopathy
- Neurodegenerative disorders, adult onset
- Hereditary neuropathy or pain disorder
- Optic neuropathy
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary neuropathy
- Albinism or congenital nystagmus
- NARP syndrome or maternally inherited Leigh syndrome
- Skeletal Muscle Channelopathies
- Hereditary ataxia, adult onset
- Retinal disorders
- Paroxysmal central nervous system disorders
- 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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MT-ATP6 was changed to MITOCHONDRIAL
Added New Source
Ellen McDonagh (Genomics England Curator)MT-ATP6 was added to All recognised syndromes and those with suggestive featurespanel. Sources: UKGTN,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)MT-ATP6 was added to All recognised syndromes and those with suggestive featurespanel. Sources: UKGTN,Emory Genetics Laboratory