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
-
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Monogenic hearing loss
- Mitochondrial DNA maintenance disorder
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Paediatric pseudo-obstruction syndrome
- Paroxysmal central nervous system disorders
- Mitochondrial disorders
- Likely inborn error of metabolism
- Early onset dystonia
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Pain syndromes
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- Hereditary neuropathy
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