Genes in panel

Adult onset movement disorder

Gene: MPV17

Red List (low evidence)

MPV17 (MPV17, mitochondrial inner membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 20 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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 RED
Created: 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)

Red List (low evidence)

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 panels
Created: 23 Apr 2019, 12:14 p.m.

Phenotypes
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810

Publications

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