Neonatal cholestasis

Gene: MPV17

Green List (high evidence)

MPV17 (MPV17, mitochondrial inner membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 20 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)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial disease; cholestasis; liver failure

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 3

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

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: mpv17 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: MPV17 were set to 16582910; 16909392; 18695062

25 Jul 2018, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 256810

25 Jul 2018, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: MPV17 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: mpv17 has been classified as Green List (High Evidence).

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to MPV17. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MPV17 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MPV17 was created by Ellen McDonagh