Albinism or congenital nystagmus
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
0 reviews
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Red
- Phenotypes
-
- Retinal degeneration and nystagmus
- Optic neuropathy and nystagmus
- Nystagmus
- OMIM
- 516060
- Clinvar variants
- Variants in MT-ATP6
- Penetrance
- None
- 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
- Intellectual disability
- NARP syndrome or maternally inherited Leigh syndrome
- Retinal disorders
- Adult onset neurodegenerative disorder
- Skeletal Muscle Channelopathies
- Optic neuropathy
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
18 Oct 2023, Gel status: 1
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: 1
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.
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MT-ATP6 was added gene: MT-ATP6 was added to Albinism or congenital nystagmus. Sources: Expert Review Red Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL Publications for gene: MT-ATP6 were set to 26448634 Phenotypes for gene: MT-ATP6 were set to Retinal degeneration and nystagmus; Optic neuropathy and nystagmus; Nystagmus