Hereditary ataxia
Gene: MT-ATP6EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels
2 reviews
Damian Smedley (Genomics England Curator)
Comment on list classification: Evidence from expert reviewer and OMIMCreated: 4 Feb 2016, 2:12 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Good evidence in literatureCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Neuropathy, Ataxia, and Retinitis Pigmentosa
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Neuropathy, Ataxia, and Retinitis Pigmentosa
- 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
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (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 Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)MT-ATP6 was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,UKGTN