Paroxysmal central nervous system disorders
Gene: MPV17EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 21 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
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)
Not a CNS disorderCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
- Navajo neurohepatopathy
- Pain insensitivity
- OMIM
- 137960
- Clinvar variants
- Variants in MPV17
- Penetrance
- None
- Publications
- Panels with this gene
-
- Possible mitochondrial disorder - nuclear genes
- Pain syndromes
- Monogenic hearing loss
- Neonatal cholestasis
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- DDG2P
- Paediatric pseudo-obstruction syndrome
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Early onset dystonia
History Filter Activity
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: mpv17 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: mpv17 has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to MPV17.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to MPV17.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to MPV17.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Navajo neurohepatopathy; Pain insensitivity for gene: MPV17
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