Dystonia, chorea or related movement disorder, adult 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
2 reviews
Louise Daugherty (Genomics England Curator)
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:39 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Emily Jones (North Bristol NHS Trust)
Dystonia seen in about 4% of patients with disorder so not a common feature. Presenting feature is metabolic decompensation / liver failure so more appropriate for it to be on other panelsCreated: 23 Apr 2019, 12:14 p.m.
Phenotypes
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Publications
Details
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
- Dystonia
- OMIM
- 137960
- Clinvar variants
- Variants in MPV17
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Monogenic hearing loss
- Likely inborn error of metabolism
- Cholestasis
- Paediatric pseudo-obstruction syndrome
- Dystonia, chorea or related movement disorder, adult onset
- Undiagnosed metabolic disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy or pain disorder
- Paroxysmal central nervous system disorders
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Hereditary neuropathy
- Fetal anomalies
- Pain syndromes
- Mitochondrial DNA maintenance disorder
- DDG2P
- Neonatal cholestasis
- Mitochondrial liver disease
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
History Filter Activity
23 Apr 2019, Gel status: 1
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 for gene: MPV17 Publications for gene MPV17 were changed from to 22593919
23 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MPV17.
23 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to MPV17.
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MPV17 was added gene: MPV17 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: MPV17 was set to Phenotypes for gene: MPV17 were set to Dystonia