Structural basal ganglia disorders
Gene: MT-ATP6EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels
4 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MITOCHONDRIAL
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
- Tags
- OMIM
- 516060
- Clinvar variants
- Variants in MT-ATP6
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Infantile nystagmus
- Optic neuropathy
- Intellectual disability
- Skeletal muscle channelopathy
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- NARP syndrome or maternally inherited Leigh syndrome
- Ataxia and cerebellar anomalies - narrow panel
- Albinism or congenital nystagmus
- Hereditary ataxia
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic 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
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for MT-ATP6 were set to 1550128; 11916326
Added New Source
Manju Kurian (UCL-Institute of Child Health)MT-ATP6 was added to Structural basal ganglia disorderspanel. Sources: Literature
Created
Manju Kurian (UCL-Institute of Child Health)MT-ATP6 was created by Manju