Monogenic hearing loss
Gene: TRMUEnsemblGeneIds (GRCh38): ENSG00000100416
EnsemblGeneIds (GRCh37): ENSG00000100416
OMIM: 610230, Gene2Phenotype
TRMU is in 10 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
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Deafness, mitochondrial, modifier of}, 580000
- {Deafness,mitochondrial,modifierof},580000
- OMIM
- 610230
- Clinvar variants
- Variants in TRMU
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Monogenic hearing loss
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)TRMU was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen