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Hearing loss

Gene: MPV17

Red List (low evidence)

MPV17 (MPV17, mitochondrial inner membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 20 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#256810:Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)[Short stature; Poor weight gain; Failure to thrive; Corneal ulcerationsNystagmus; HepatomegalyAcute hepatic failureReye syndrome-like episodesBiopsy shows multinucleated giant cellsMacrovesicular steatosisMicrovesicular steatosisPseudo-aciniInflammationCholestasisBridging fibrosisCirrhosisMitochondrial DNA depletion in liver tissue; VomitingDiarrhea; Painless fractures due to injury; Acral ulceration and osteomyelitis leading to autoamputation; Acral ulceration and osteomyelitis leading to autoamputation; Neonatal jaundice; Progressive white matter lesions in the brainHypotoniaDystoniaAtaxiaDevelopmental delay; Progressive sensorimotor neuropathyPain insensitivityHyporeflexiaAreflexiaMuscle weakness, distalDelayed motor nerve conduction velocities (NCV)Loss of large and small myelinated fibers seen on nerve biopsy; Lactic acidosisHypoglycemia; Systemic infections; Elevated liver enzymesIncreased total and conjugated bilirubin]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MPV17 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert