Neonatal cholestasis
Gene: IARS

IARS (isoleucyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000196305
EnsemblGeneIds (GRCh37): ENSG00000196305
OMIM: 600709, Gene2Phenotype
IARS is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for IARS is IARS1
Created: 6 Sep 2019, 2:12 p.m. | Last Modified: 6 Sep 2019, 2:12 p.m.

Panel Version: 1.4

Created: 6 Sep 2019, 2:12 p.m.
Last Modified: 6 Sep 2019, 2:12 p.m.
Panel version: 1.4

Sarah Leigh (Genomics England Curator)

"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.

Created: 15 Aug 2018, 1:13 p.m.

Panel version: 1.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 617093

Tags

new-gene-name

OMIM

600709

Clinvar variants

Variants in IARS

Penetrance

None

Publications

Panels with this gene