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