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Newborns main panel

Gene: IARS

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

1 review

Mafalda Gomes (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for IARS is IARS1
Created: 25 Oct 2023, 9:01 a.m. | Last Modified: 25 Oct 2023, 9:01 a.m.
Panel Version: 0.250
The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 35668413 - 6 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.250

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
Tags
new-gene-name
OMIM
600709
Clinvar variants
Variants in IARS
Penetrance
None
Panels with this gene

History Filter Activity

25 Oct 2023, Gel status: 2

Added Tag

Mafalda Gomes (Genomics England Curator)

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

25 Oct 2023, Gel status: 2

Removed Tag, Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name was removed from gene: IARS. Tag IARS1 was removed from gene: IARS.

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to IARS. Added phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy for gene: IARS Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to IARS. Added phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy for gene: IARS Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to IARS. Added phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy for gene: IARS Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to IARS. Added phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy for gene: IARS Rating Changed from No List (delete) to Green List (high evidence)

27 Mar 2023, Gel status: 0

Added Tag, Added Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name tag was added to gene: IARS. Tag IARS1 tag was added to gene: IARS.

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: IARS was added gene: IARS was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal