Hereditary neuropathy
Gene: MPV17EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 21 panels
5 reviews
Louise Daugherty (Genomics England Curator)
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)
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mary Reilly (Institute of Neurology)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
- OMIM
- 137960
- Clinvar variants
- Variants in MPV17
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Cholestasis
- Undiagnosed metabolic disorders
- Mitochondrial liver disease, including transient infantile liver failure
- Mitochondrial DNA maintenance disorder
- Paediatric pseudo-obstruction syndrome
- Adult onset neurodegenerative disorder
- Mitochondrial disorders
- Intellectual disability
- Early onset dystonia
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Pain syndromes
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- DDG2P
- Neonatal cholestasis
- Possible mitochondrial disorder - nuclear genes
- Paroxysmal central nervous system disorders
- Hereditary neuropathy
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MPV17.
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)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Mary Reilly (Institute of Neurology)MPV17 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review
Created
Mary Reilly (Institute of Neurology)MPV17 was created by MReilly-925