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