Cholestasis
Gene: MPV17
MPV17 (MPV17, mitochondrial inner membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Hepatic involvement is prominent, cholestasis described in addition to hepatomegaly, persistent neonatal jaundice, Reye-like syndrome, progressive hepatic failure.Created: 9 Aug 2020, 3:43 a.m. | Last Modified: 9 Aug 2020, 3:43 a.m.
Panel Version: 0.106
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
- OMIM
- 137960
- Clinvar variants
- Variants in MPV17
- Penetrance
- None
- 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
9 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mpv17 has been classified as Green List (High Evidence).
9 Aug 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MPV17 were changed from to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
9 Aug 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MPV17 was added gene: MPV17 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MPV17 was set to Unknown