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Mitochondrial disease

Gene: MPV17

Green List (high evidence)
MPV17 (MPV17, mitochondrial inner membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 8 May 2021, 2:16 a.m.
Last Modified: 8 May 2021, 2:16 a.m.
Panel version: Imported from Mendeliome panel version Imported from Hereditary Neuropathy_CMT - isolated panel version 0.126

History Filter Activity

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 Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: MPV17 was set to Unknown