Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

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

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Charcot-Marie-Tooth disease type 2EE is an autosomal recessive sensorimotor peripheral axonal neuropathy. It primarily affects the lower limbs and is slowly progressive, sometimes resulting in loss of ambulation, with later onset of upper limb involvement. There is significant distal muscle weakness and atrophy, usually with foot or hand deformities. Skeletal muscle biopsy shows findings of disturbed mitochondrial maintenance. Cognition is unaffected, and chronic liver disease is absent.

Onset in the first or second decade of life, more than 5 unrelated families reported with the isolated CMT phenotype.

Mitochondrial DNA depletion syndrome-6 is infantile onset, characterized by infantile onset of progressive liver failure, often leading to death in the first year of life. Those that survive develop progressive neurologic involvement, including ataxia, hypotonia, dystonia, and psychomotor regression. The more severe disorder of MPV17.
Created: 30 Jan 2025, 8:55 p.m. | Last Modified: 30 Jan 2025, 8:55 p.m.
Panel Version: 1.1367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2EE, MIM#618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810

Publications

History Filter Activity

30 Jan 2025, 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).

30 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MPV17 were changed from Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810

30 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MPV17 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) for gene: MPV17

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MPV17 was added gene: MPV17 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)