Neonatal cholestasis
Gene: TRMUComment 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.
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cholestasis; mitochondrial disease; liver failure
This panel has been subjected to extensive internal and external review.
Gene: trmu has been classified as Green List (High Evidence).
Gene: trmu has been classified as Green List (High Evidence).
Publications for gene: TRMU were set to 19732863; 21931168; 23625533; 21153446
Publications for gene: TRMU were set to 19732863; 21931168
Mode of inheritance for gene: TRMU was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: trmu has been classified as Amber List (Moderate Evidence).
Publications for gene: TRMU were set to 19732863
Phenotypes for gene: TRMU were set to Liver failure, transient infantile 613070
Victorian Clinical Genetics Services was added to TRMU. Panel: Cholestasis
TRMU was added to Cholestasis panel. Sources: Emory Genetics Laboratory
TRMU was created by Ellen McDonagh