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
0 reviews
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 137960
- Clinvar variants
- Variants in MPV17
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric pseudo-obstruction syndrome
- Monogenic hearing loss
- Possible mitochondrial disorder, nuclear genes
- Dystonia, chorea or related movement disorder, adult onset
- Cholestasis
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Undiagnosed metabolic disorders
- Neurodegenerative disorders, adult onset
- DDG2P
- Early onset dystonia
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Pain syndromes
- Fetal anomalies
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Neonatal cholestasis
- Mitochondrial liver disease
- Paroxysmal central nervous system disorders
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