Gastrointestinal neuromuscular disease
Gene: MPV17EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 15 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Biallelic variants in the MPV17 gene can also cause mitochondrial DNA depletion syndrome-6 (MIM#256810), a much more severe disorder with brain and liver involvement.
More than 5 unrelated families reported with the isolated CMT phenotype.Created: 8 May 2021, 2:16 a.m. | Last Modified: 8 May 2021, 2:16 a.m.
Panel Version: 0.126
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Publications
Bryony Thompson (Royal Melbourne Hospital)
Gastrointestinal features including dysmotility have been reported in association biallelic variants in this gene in about 30% of cases with this condition, according to GeneReviews.
Sources: Expert listCreated: 3 Jul 2020, 3:10 a.m.
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 Green
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810
- 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 Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mpv17 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MPV17 was added gene: MPV17 was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPV17 were set to 22964873; 28673863; 22593919 Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810 Review for gene: MPV17 was set to GREEN