NARP syndrome or maternally inherited Leigh syndrome
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
2 reviews
Eleanor Williams (Genomics England Curator)
No phenotype in OMIM but checked this is the correct gene in the Test Directory v5 and added the gene-checked tag.Created: 6 Sep 2023, 9:16 p.m. | Last Modified: 6 Sep 2023, 9:16 p.m.
Panel Version: 0.1
Achchuthan Shanmugasundram (Genomics England Curator)
MT-ATP6 has been added to the panel for R351 NARP syndrome or maternally inherited Leigh syndrome with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:55 p.m. | Last Modified: 30 Jun 2023, 2:55 p.m.
Panel Version: 0.1
Mode of inheritance
MITOCHONDRIAL
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- NHS GMS
- Expert Review Green
- Tags
- OMIM
- 516060
- Clinvar variants
- Variants in MT-ATP6
- Penetrance
- None
- Panels with this gene
-
- Skeletal muscle channelopathy
- Structural basal ganglia disorders
- Intellectual disability
- NARP syndrome or maternally inherited Leigh syndrome
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Infantile nystagmus
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Hereditary neuropathy
- Paroxysmal central nervous system disorders
- Optic neuropathy
- Mitochondrial disorders
- Adult onset neurodegenerative disorder
- Albinism or congenital nystagmus
- Skeletal Muscle Channelopathies
- Retinal disorders
- Adult onset dystonia, chorea or related movement disorder
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.
6 Sep 2023, Gel status: 3
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: MT-ATP6.
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: MT-ATP6 was added gene: MT-ATP6 was added to NARP syndrome or maternally inherited Leigh syndrome. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL