Dystonia - complex
Gene: MPV17
MPV17 (MPV17, mitochondrial inner membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Dystonia is not a prominent feature of the condition. It has been reported in 4/91 (4%) of cases. There are other features that are more prominent.
Sources: Expert listCreated: 6 Apr 2020, 2:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810
- OMIM
- 137960
- Clinvar variants
- Variants in MPV17
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- Liver Failure_Paediatric
- Gastrointestinal neuromuscular disease
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Prepair 500+
- Pain syndromes
History Filter Activity
6 Sep 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mpv17 has been classified as Red List (Low Evidence).
6 Apr 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MPV17 was added gene: MPV17 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPV17 were set to 29282788 Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810 Review for gene: MPV17 was set to RED