This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
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
1 review
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: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- South West GLH
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
- OMIM
- 137960
- Clinvar variants
- Variants in MPV17
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial liver disease, including transient infantile liver failure
- Mitochondrial disorders
- Mitochondrial DNA maintenance disorder
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Monogenic hearing loss
- Undiagnosed metabolic disorders
- Fetal anomalies
- Intellectual disability
- Paediatric pseudo-obstruction syndrome
- Paroxysmal central nervous system disorders
- Cholestasis
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Pain syndromes
- Childhood onset dystonia, chorea or related movement disorder
- Neonatal cholestasis
- Likely inborn error of metabolism
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
9 Jul 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene MPV17 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 for gene: MPV17
2 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to MPV17.
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: MPV17 was added gene: MPV17 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: MPV17 was set to