Pain syndromes
Gene: MPV17EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Pain insensitivity has been reported, but it is not a prominent feature of the condition. The gene is present on the hereditary neuropathy panel, which is more suitable.Created: 25 Feb 2021, 4:26 a.m. | Last Modified: 25 Feb 2021, 4:26 a.m.
Panel Version: 0.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- 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
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- Liver Failure_Paediatric
- Gastrointestinal neuromuscular disease
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Prepair 500+
- Pain syndromes
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mpv17 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mpv17 has been classified as Red List (Low Evidence).
Added New Source, Set Phenotypes, Status Update
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Source Expert Review Amber was added to MPV17. Added phenotypes Navajo neurohepatopathy; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Pain insensitivity for gene: MPV17 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MPV17 was added gene: MPV17 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPV17 were set to 16582910; 16909392; 23714749; 22508010; 185990; 11431741 Phenotypes for gene: MPV17 were set to Navajo neurohepatopathy; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Pain insensitivity