This Panel is marked as Deleted
Cholestasis Victorian Clinical Genetics Services
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
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 137960
- Clinvar variants
- Variants in MPV17
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Paediatric pseudo-obstruction syndrome
- Cholestasis
- Undiagnosed metabolic disorders
- Fetal anomalies
- Likely inborn error of metabolism
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Monogenic hearing loss
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Pain syndromes
- Neurodegenerative disorders, adult onset
- Mitochondrial DNA maintenance disorder
- DDG2P
- Neonatal cholestasis
- Mitochondrial liver disease
- Paroxysmal central nervous system disorders
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)MPV17 was added to Cholestasis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)MPV17 was created by Sarah Leigh