Cholestasis

Gene: MPV17

Amber List (moderate evidence)

MPV17 (MPV17, mitochondrial inner membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 21 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Hepatic involvement is prominent, cholestasis described in addition to hepatomegaly, persistent neonatal jaundice, Reye-like syndrome, progressive hepatic failure.
Sources: Expert list
Created: 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

History Filter Activity

28 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mpv17 has been classified as Amber List (Moderate Evidence).

28 Oct 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: MPV17.

14 Oct 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

9 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Australian Genomics)

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