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