Neonatal cholestasis

Gene: IARS

Amber List (moderate evidence)

IARS (isoleucyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000196305
EnsemblGeneIds (GRCh37): ENSG00000196305
OMIM: 600709, Gene2Phenotype
IARS is in 7 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

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.

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

History Filter Activity

5 Aug 2019, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag new-gene-name tag was added to gene: IARS.

3 Sep 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

15 Aug 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: iars has been classified as Amber List (Moderate Evidence).

15 Aug 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: IARS was changed from to BIALLELIC, autosomal or pseudoautosomal

15 Aug 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: iars has been classified as Amber List (Moderate Evidence).

15 Aug 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: IARS were set to 27891590; 27426735

15 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: IARS were set to Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 617093

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

IARS was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services

21 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

IARS was created by Ellen McDonagh