Neonatal cholestasis
Gene: IARSAdded new-gene-name tag, new approved HGNC gene symbol for IARS is IARS1Created: 6 Sep 2019, 2:12 p.m. | Last Modified: 6 Sep 2019, 2:12 p.m.
Panel Version: 1.4
"New gene name" tag added, the new gene name is IARS1.Created: 5 Aug 2019, 1:33 p.m. | Last Modified: 5 Aug 2019, 1:33 p.m.
Panel Version: 1.4
Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 8 variants reported in 4 unrelated cases. Cholestasis was only evident in 2 of these cases and one of these cases also carried a heterozygous ABCB11 variant, which may contribute to the manifestation of cholestasis.Created: 15 Aug 2018, 1:13 p.m.
Tag new-gene-name tag was added to gene: IARS.
This panel has been subjected to extensive internal and external review.
Gene: iars has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: IARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: iars has been classified as Amber List (Moderate Evidence).
Publications for gene: IARS were set to 27891590; 27426735
Phenotypes for gene: IARS were set to Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 617093
IARS was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
IARS was created by Ellen McDonagh