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  3. IARS
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Cholestasis

Gene: IARS

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

2 reviews

Ivone Leong (Genomics England Curator)

"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
Created: 29 Oct 2020, 11:14 a.m.
Last Modified: 29 Oct 2020, 11:14 a.m.
Panel version: 1.47

Zornitza Stark (Australian Genomics)

I don't know

Liver dysfunction is variable, intermittent, and not present in all individuals reported. However, two individuals specifically reported as having cholestasis.
Sources: Expert list
Created: 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

Created: 9 Aug 2020, 3:15 a.m.

Panel version: 1.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Growth retardation, impaired intellectual development, 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

29 Oct 2020, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

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

29 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

29 Oct 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

9 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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