Paroxysmal central nervous system disorders
Gene: MT-ATP6EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
Comment on list classification: Demoted MT-ATP6 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 3:03 p.m. | Last Modified: 9 Sep 2019, 3:03 p.m.
Panel Version: 0.52
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Tracy Lester (Genetics laboratory, Oxford UK)
Not paroxysmal? Not relevantCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Neuropathy, ataxia, and retinitis pigmentosa, 551500
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Neuropathy, ataxia, and retinitis pigmentosa, 551500
- OMIM
- 516060
- Clinvar variants
- Variants in MT-ATP6
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Undiagnosed metabolic disorders
- Infantile nystagmus
- Optic neuropathy
- Likely inborn error of metabolism
- Skeletal muscle channelopathy
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Mitochondrial disorders
- NARP syndrome or maternally inherited Leigh syndrome
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Albinism or congenital nystagmus
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Hereditary ataxia
- Skeletal Muscle Channelopathies
- Retinal disorders
- Paroxysmal central nervous system disorders
- 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.
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: mt-atp6 has been classified as Red List (Low Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: MT-ATP6 were changed from to Neuropathy, ataxia, and retinitis pigmentosa, 551500
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: mt-atp6 has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to MT-ATP6.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to MT-ATP6.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to MT-ATP6.
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: MT-ATP6 was added gene: MT-ATP6 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL