This Panel is marked as Internal
Dystonia - childhood onset
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
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dystonia
- OMIM
- 137960
- Clinvar variants
- Variants in MPV17
- Penetrance
- None
- 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
- Intellectual disability
- Paediatric pseudo-obstruction syndrome
- Paroxysmal central nervous system disorders
- Mitochondrial disorders
- Fetal anomalies
- Likely inborn error of metabolism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Pain syndromes
- Hereditary neuropathy or pain disorder
- DDG2P
- Neonatal cholestasis
- Hereditary neuropathy
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: MPV17 was added gene: MPV17 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: MPV17 was set to Unknown Phenotypes for gene: MPV17 were set to Dystonia