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Mitochondrial disease

Gene: TRMU

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Acute infantile liver failure resulting from variants in TRMU is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. With supportive care, patients who survive the initial acute episode can recover and show normal development.

Thirteen individuals reported, including 7 of Yemenite Jewish origin with same recurrent founder variant, p.Tyr77His.
Created: 9 Apr 2022, 7:03 a.m. | Last Modified: 9 Apr 2022, 7:03 a.m.
Panel Version: 0.12798

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Liver failure, transient infantile, MIM# 613070

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
OMIM
610230
Clinvar variants
Variants in TRMU
Penetrance
None
Panels with this gene

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: TRMU was added gene: TRMU 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: TRMU was set to Unknown