Hereditary neuropathy or pain disorder
Gene: MPV17
MPV17 (MPV17, mitochondrial inner membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 21 panels
EnsemblGeneIds (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
-
- Expert Review Green
- Expert Review
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
- OMIM
- 137960
- Clinvar variants
- Variants in MPV17
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Paediatric pseudo-obstruction syndrome
- Neurodegenerative disorders, adult onset
- Cholestasis
- Undiagnosed metabolic disorders
- Early onset dystonia
- Intellectual disability
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Monogenic hearing loss
- Hereditary neuropathy
- Pain syndromes
- Mitochondrial DNA maintenance disorder
- DDG2P
- Neonatal cholestasis
- Mitochondrial liver disease
- Paroxysmal central nervous system disorders
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
History Filter Activity
5 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MPV17 was added gene: MPV17 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)