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