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Prepair 1000+

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

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

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.

HGNC approved symbol/name: TRMU
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? N
Gene reported in >3 independent families

Yemenite Jewish founder variant, p.Tyr77His.
Created: 7 Feb 2025, 3:29 a.m. | Last Modified: 7 Feb 2025, 3:29 a.m.
Panel Version: 1.1460

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Liver failure, transient infantile MIM# 613070; acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Liver failure, transient infantile MIM# 613070
  • acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111
OMIM
610230
Clinvar variants
Variants in TRMU
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trmu has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRMU were changed from Liver failure, transient infantile, 613070 (3) to Liver failure, transient infantile MIM# 613070; acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRMU were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Liver failure, transient infantile, 613070 (3) for gene: TRMU

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: TRMU was added gene: TRMU was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMU were set to Liver failure, transient infantile, 613070 (3)