Neonatal cholestasis

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

3 reviews

Anna de Burca (Genomics England Curator)

Comment on list classification: Biallelic variants in TRMU have been reported in 5 further patients with transient liver failure, including cholestasis, in addition to the original cohort of 13 patients of predominately Yemenite Jewish origin. This is therefore a plausible cause of neonatal liver dysfunction.
Created: 25 Jul 2018, 3:10 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: More than 3 unrelated cases reported in PMID: 19732863 for neonatal liver failure and an expert green review, however as this is transient liver failure I am unsure whether this is suitable for this panel. Cholestasis was seen in one of the patient's liver samples.
Created: 25 Jul 2018, 2:10 p.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cholestasis; mitochondrial disease; liver failure

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

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

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

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

25 Jul 2018, Gel status: 2

Set publications

Anna de Burca (Genomics England Curator)

Publications for gene: TRMU were set to 19732863; 21931168; 23625533; 21153446

25 Jul 2018, Gel status: 2

Set publications

Anna de Burca (Genomics England Curator)

Publications for gene: TRMU were set to 19732863; 21931168

25 Jul 2018, Gel status: 2

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: TRMU was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: trmu has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: TRMU were set to 19732863

25 Jul 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: TRMU were set to Liver failure, transient infantile 613070

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to TRMU. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TRMU was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

TRMU was created by Ellen McDonagh