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  2. Liver Failure_Paediatric
  3. TRMU
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Liver Failure_Paediatric

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.
Sources: Expert list
Created: 1 Nov 2020, 12:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Liver failure, transient infantile, MIM# 613070

Publications

Created: 1 Nov 2020, 12:57 a.m.

Panel version: 0.24

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Liver failure, transient infantile, MIM# 613070
OMIM
610230
Clinvar variants
Variants in TRMU
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Nov 2020, 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).

1 Nov 2020, 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).

1 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRMU was added gene: TRMU was added to Acute Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMU were set to 19732863 Phenotypes for gene: TRMU were set to Liver failure, transient infantile, MIM# 613070 Review for gene: TRMU was set to GREEN