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