Neonatal cholestasis
Gene: MPV17EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 21 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: Added phenotypes suggested from external expert review.Created: 25 Jul 2018, 2:34 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: More than 3 cases and an expert Green review. This gene is associated with Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) in OMIM, with cholestasis as a feature, and more than 3 unrelated cases reported. This is a confirmed DD gene for Mitochondrial DNA depletion syndrome 6. This is a Green gene on the Mitochondrial disorders panel Version 1.66.Created: 25 Jul 2018, 12:50 p.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial disease; cholestasis; liver failure
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 256810
- cholestasis
- liver failure
- OMIM
- 137960
- Clinvar variants
- Variants in MPV17
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Monogenic hearing loss
- Mitochondrial DNA maintenance disorder
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Paediatric pseudo-obstruction syndrome
- Paroxysmal central nervous system disorders
- Mitochondrial disorders
- Fetal anomalies
- Likely inborn error of metabolism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Pain syndromes
- DDG2P
- Neonatal cholestasis
- Hereditary neuropathy
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 256810; cholestasis; liver failure
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: mpv17 has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: MPV17 were set to 16582910; 16909392; 18695062
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 256810
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: MPV17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: mpv17 has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to MPV17. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)MPV17 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)MPV17 was created by Ellen McDonagh