Neonatal cholestasis
Gene: MPV17Comment on phenotypes: Added phenotypes suggested from external expert review.Created: 25 Jul 2018, 2:34 p.m.
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial disease; cholestasis; liver failure
This panel has been subjected to extensive internal and external review.
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 256810; cholestasis; liver failure
Gene: mpv17 has been classified as Green List (High Evidence).
Publications for gene: MPV17 were set to 16582910; 16909392; 18695062
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 256810
Mode of inheritance for gene: MPV17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: mpv17 has been classified as Green List (High Evidence).
Victorian Clinical Genetics Services was added to MPV17. Panel: Cholestasis
MPV17 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
MPV17 was created by Ellen McDonagh