Ataxia and cerebellar anomalies - childhood onset
Gene: MT-ATP6EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels
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Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neuropathy, Ataxia, and Retinitis Pigmentosa
- Tags
- OMIM
- 516060
- Clinvar variants
- Variants in MT-ATP6
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Structural basal ganglia disorders
- Undiagnosed metabolic disorders
- Infantile nystagmus
- Hereditary ataxia
- Skeletal muscle channelopathy
- Hereditary neuropathy or pain disorder
- Optic neuropathy
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary neuropathy
- Albinism or congenital nystagmus
- NARP syndrome or maternally inherited Leigh syndrome
- Ataxia and cerebellar anomalies - childhood onset
- Skeletal Muscle Channelopathies
- Neurodegenerative disorders, adult onset
- Hereditary ataxia, adult onset
- Retinal disorders
- 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.
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: MT-ATP6.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MT-ATP6 was added gene: MT-ATP6 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL Phenotypes for gene: MT-ATP6 were set to Neuropathy, Ataxia, and Retinitis Pigmentosa