Early onset dystonia
Gene: MPV17
MPV17 (MPV17, mitochondrial inner membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 21 panels
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Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 137960
- Clinvar variants
- Variants in MPV17
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Paediatric pseudo-obstruction syndrome
- Monogenic hearing loss
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
- Paroxysmal central nervous system disorders
- Mitochondrial DNA maintenance disorder
- Fetal anomalies
- Mitochondrial disorders
- Early onset dystonia
- Adult onset neurodegenerative disorder
- Pain syndromes
- Neonatal cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
17 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
28 Apr 2015, Gel status: 1
Added New Source
GEL ()MPV17 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory