Hereditary neuropathy or pain disorder
Gene: MT-ATP6
MT-ATP6 (mitochondrially encoded ATP synthase 6)
EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels
EnsemblGeneIds (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
-
- Expert Review Green
- Expert Review
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
- Tags
- 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
18 Oct 2023, Gel status: 3
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.
12 Sep 2023, Gel status: 3
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.
8 May 2022, Gel status: 3
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: MT-ATP6.
5 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: MT-ATP6 was added gene: MT-ATP6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL