Cholestasis
Gene: MPV17The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
Comment on list classification: New gene added by Zornitiza Stark. Based on the available evidence there is enough evidence to support a gene-disease association. Therefore, this gene is rated Amber and will be promoted to Green in the next review.
This gene is also Green on the Neonatal Cholestasis panel (v1.4)Created: 28 Oct 2020, 2:33 p.m. | Last Modified: 28 Oct 2020, 2:33 p.m.
Panel Version: 1.40
Hepatic involvement is prominent, cholestasis described in addition to hepatomegaly, persistent neonatal jaundice, Reye-like syndrome, progressive hepatic failure.
Sources: Expert listCreated: 9 Aug 2020, 3:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: MPV17.
Source Expert Review Green was added to MPV17. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: mpv17 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: MPV17.
Phenotypes for gene: MPV17 were changed from Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810 to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
gene: MPV17 was added gene: MPV17 was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810 Review for gene: MPV17 was set to GREEN gene: MPV17 was marked as current diagnostic