Cholestasis
Gene: TRMUEnsemblGeneIds (GRCh38): ENSG00000100416
EnsemblGeneIds (GRCh37): ENSG00000100416
OMIM: 610230, Gene2Phenotype
TRMU is in 10 panels
2 reviews
Miranda Durkie (Genetics)
Associated with transient infantile liver failure = overlapping phenotype
PMID: 23625533 3 unrelated patients with cholestasis and jaundice and hepatomegaly
PMID: 19732863 - at least 1 patient had cholestasisCreated: 20 Jan 2022, 2:17 p.m. | Last Modified: 20 Jan 2022, 2:17 p.m.
Panel Version: 1.103
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
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 Review Green
- Expert list
- Phenotypes
-
- Liver failure, transient infantile, OMIM: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
Removed Tag, Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: TRMU. Tag Q1_22_NHS_review was removed from gene: TRMU.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to TRMU. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q1_22_NHS_review tag was added to gene: TRMU.
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: TRMU.
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