Mitochondrial liver disease, including transient infantile liver failure
Gene: TRMU
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: TRMU; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LIVER FAILURE, INFANTILE, TRANSIENT, 613070
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: As suggested by expert review.Created: 12 Feb 2016, 5:10 p.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.Created: 12 Feb 2016, 5:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
gene: TRMU was added gene: TRMU was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMU were set to LIVER FAILURE, INFANTILE, TRANSIENT, 613070