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Hearing loss

Gene: TRMU

Red List (low evidence)

TRMU (tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000100416
EnsemblGeneIds (GRCh37): ENSG00000100416
OMIM: 610230, Gene2Phenotype
TRMU is in 9 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#580000:{Deafness, mitochondrial, modifier of}[Drug-induced hearing loss]; #613070:Liver failure, transient infantile[Distended abdomen; Acute liver failureJaundiceHepatomegalyLiver biopsy during acute episode shows variable portal and sinusoidal fibrosisMinimal inflammationOncocytic changesProliferation of bile ductulesMacrovesicular steatosisMicrovesicular steatosisFocal ballooning of hepatocytesCholestasisNecrosisMitochondrial respiratory chain defectsNo mtDNA depletion; Poor feedingVomiting; Pale-gray skinJaundice; HypotoniaCOX-depleted fibers; Lactic acidosis; Coagulopathy secondary to liver failure; Hyperbilirubinemia, directDecreased serum albuminIncreased serum lactateIncreased alpha-fetoproteinAbnormal liver enzymes]

Publications

Details

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TRMU was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen