Hereditary Neuropathy_CMT - isolated
Gene: MPV17EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 15 panels
1 review
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- HMSN
- Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mpv17 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MPV17 were changed from HMSN; Charcot-Marie-Tooth disease, axonal, type 2EE to HMSN; Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MPV17 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MPV17 was added gene: MPV17 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPV17 were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2EE