Paroxysmal central nervous system disorders

Gene: MPV17

Red List (low evidence)

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

3 reviews

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

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Demoted MPV17 from Amber to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Created: 9 Sep 2019, 3:37 p.m. | Last Modified: 9 Sep 2019, 3:37 p.m.
Panel Version: 0.84
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Not a CNS disorder
Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810

History Filter Activity

24 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: mpv17 has been classified as Red List (Low Evidence).

9 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: mpv17 has been classified as Red List (Low Evidence).

2 Sep 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MPV17.

2 Sep 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to MPV17.

2 Sep 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MPV17.

3 Jan 2019, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Navajo neurohepatopathy; Pain insensitivity for gene: MPV17

3 Jan 2019, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: MPV17 was added gene: MPV17 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPV17 were set to 16582910; 23714749; 185990; 11431741; 16909392; 22508010 Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Navajo neurohepatopathy; Pain insensitivity