Cholestasis
Gene: IARS

IARS (isoleucyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000196305
EnsemblGeneIds (GRCh37): ENSG00000196305
OMIM: 600709, Gene2Phenotype
IARS is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Liver dysfunction is variable, intermittent, and not present in all individuals reported. Two individuals reported as having cholestasis.
Created: 9 Aug 2020, 3:13 a.m. | Last Modified: 9 Aug 2020, 3:13 a.m.

Panel Version: 0.90

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy

Publications

Created: 9 Aug 2020, 3:13 a.m.
Last Modified: 9 Aug 2020, 3:13 a.m.
Panel version: 0.90

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

LOF confirmed

Gene also known as IARS1
Created: 30 Jan 2020, 10:17 p.m. | Last Modified: 30 Jan 2020, 10:17 p.m.

Panel Version: 0.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy

Publications

PMID: 27426735

Created: 30 Jan 2020, 10:17 p.m.
Last Modified: 30 Jan 2020, 10:17 p.m.
Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093

Tags

new gene name

OMIM

600709

Clinvar variants

Variants in IARS

Penetrance

None

Publications

Panels with this gene