Cholestasis

Gene: TRMU

Amber List (moderate evidence)

TRMU (tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000100416
EnsemblGeneIds (GRCh37): ENSG00000100416
OMIM: 610230, Gene2Phenotype
TRMU is in 10 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

This gene has been added to this panel as it is Green on the Neonatal cholestasis panel (v1.16). It has been given an Amber review and awaiting feedback from GMS about whether this gene should be promoted to Green status or not.
Created: 18 Nov 2020, 4:01 p.m. | Last Modified: 18 Nov 2020, 4:01 p.m.
Panel Version: 1.74

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Liver failure, transient infantile, OMIM:613070
Tags
for-review
OMIM
610230
Clinvar variants
Variants in TRMU
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Nov 2020, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: TRMU.

18 Nov 2020, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: TRMU was added gene: TRMU was added to Cholestasis. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMU were set to 21153446; 21931168; 19732863; 23625533 Phenotypes for gene: TRMU were set to Liver failure, transient infantile, OMIM:613070