Genes in panel

Hereditary neuropathy

Gene: MPV17

Green List (high evidence)

MPV17 (MPV17, mitochondrial inner membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 19 panels

5 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added by a reviewer and rated green by a second reviewer. It is a confirmed DD gene for mitochondrial DNA depletion syndrome 6, and is green on the version 1 mitochondrial panel.
Created: 6 May 2016, 3:17 p.m.

History Filter Activity

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MPV17.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to MPV17. Rating Changed from Green List (high evidence) to Green List (high evidence)

6 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

6 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Dec 2015, Gel status: 0

Added New Source

Mary Reilly (Institute of Neurology)

MPV17 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review

8 Dec 2015, Gel status: 0

Created

Mary Reilly (Institute of Neurology)

MPV17 was created by MReilly-925