Neonatal cholestasis
Gene: TRMUEnsemblGeneIds (GRCh38): ENSG00000100416
EnsemblGeneIds (GRCh37): ENSG00000100416
OMIM: 610230, Gene2Phenotype
TRMU is in 10 panels
3 reviews
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cholestasis; mitochondrial disease; liver failure
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Liver failure, transient infantile 613070
- OMIM
- 610230
- Clinvar variants
- Variants in TRMU
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cholestasis
- Mitochondrial liver disease, including transient infantile liver failure
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Monogenic hearing loss
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: trmu has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: trmu has been classified as Green List (High Evidence).
Set publications
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Publications for gene: TRMU were set to 19732863; 21931168; 23625533; 21153446
Set publications
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Publications for gene: TRMU were set to 19732863; 21931168
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: TRMU was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: trmu has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: TRMU were set to 19732863
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: TRMU were set to Liver failure, transient infantile 613070
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to TRMU. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)TRMU was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)TRMU was created by Ellen McDonagh