Infantile nystagmus
Gene: MT-ATP6EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels
1 review
Ellen McDonagh (Genomics England Curator)
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Retinal degeneration and nystagmus; Nystagmus; Optic neuropathy and nystagmus
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Retinal degeneration and nystagmus
- Nystagmus
- Optic neuropathy and nystagmus
- OMIM
- 516060
- Clinvar variants
- Variants in MT-ATP6
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Intellectual disability
- Undiagnosed metabolic disorders
- Infantile nystagmus
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
- Retinal disorders
- Skeletal muscle channelopathy
- Likely inborn error of metabolism
- Optic neuropathy
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary neuropathy
- Albinism or congenital nystagmus
- Hereditary neuropathy or pain disorder
- Neurodegenerative disorders, adult onset
- NARP syndrome or maternally inherited Leigh syndrome
- Skeletal Muscle Channelopathies
- Hereditary ataxia, adult onset
- Paroxysmal central nervous system disorders
- Mitochondrial 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.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)21/Dec/2016: panel revised according to expert review, addition of green genes from the Ocular and oculo-cutaneous albinism (Version 1.1) gene panel and further curation.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ATP6 were set to 26448634
Added New Source
Ellen McDonagh (Genomics England Curator)MT-ATP6 was added to Infantile nystagmuspanel. Sources: Literature
Created
Ellen McDonagh (Genomics England Curator)MT-ATP6 was created by ellenmcdonagh