Hereditary neuropathy
Gene: MT-ATP6EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
MITOCHONDRIAL
Mary Reilly (Institute of Neurology)
Mode of inheritance
MITOCHONDRIAL
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added by a review and rated green by a second reviewer. It is a green gene on the version 1 mitochondrial panel.Created: 6 May 2016, 3:26 p.m.
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Tags
- OMIM
- 516060
- Clinvar variants
- Variants in MT-ATP6
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Retinal disorders
- Infantile nystagmus
- Optic neuropathy
- Skeletal muscle channelopathy
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- NARP syndrome or maternally inherited Leigh syndrome
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Albinism or congenital nystagmus
- Hereditary ataxia
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- 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.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MT-ATP6.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to MT-ATP6. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Mary Reilly (Institute of Neurology)MT-ATP6 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review
Created
Mary Reilly (Institute of Neurology)MT-ATP6 was created by MReilly-925