Cholestasis
Gene: IARS"New gene name" tag added, the new gene name is IARS1.Created: 29 Oct 2020, 11:15 a.m. | Last Modified: 29 Oct 2020, 11:15 a.m.
Panel Version: 1.47
Comment on list classification: New gene added by Zornitza Stark. Based on the available evidence there is currently not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.
This gene is also Amber on the Neonatal cholestasis panel (v1.4) with the following review:
"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."Created: 29 Oct 2020, 11:14 a.m. | Last Modified: 29 Oct 2020, 11:14 a.m.
Panel Version: 1.47
Liver dysfunction is variable, intermittent, and not present in all individuals reported. However, two individuals specifically reported as having cholestasis.
Sources: Expert listCreated: 9 Aug 2020, 3:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Publications
Tag new-gene-name tag was added to gene: IARS.
Gene: iars has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: IARS were changed from Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
gene: IARS was added gene: IARS was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS were set to 27426735; 27891590 Phenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Review for gene: IARS was set to AMBER