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Intellectual disability

Gene: IARS

Green List (high evidence)

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

3 reviews

Sarah Leigh (Genomics England Curator)

"New gene name" tag added, the new gene name is IARS1.
Created: 5 Aug 2019, 1:36 p.m. | Last Modified: 5 Aug 2019, 1:36 p.m.
Panel Version: 2.995

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Early presentation with hypotonia and global delay is appropriate for this panel.
Created: 21 Dec 2017, 10:56 a.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Added new-gene-name tag, new approved HGNC gene symbol for IARS is IARS1
Created: 6 Sep 2019, 2:09 p.m. | Last Modified: 6 Sep 2019, 2:09 p.m.
Panel Version: 2.1022
Probable gene in Developmental Disorders Genotype-Phenotype Database (DDG2P) for Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. Kopajtich et al., 2016 PMID:27426735 reported 3 unrelated patients with a multisystem disorder characterized by intrauterine and postnatal growth retardation, including small head circumference (-3 to -5 SD), hypotonia and delayed psychomotor development with variable severity of intellectual disability.
Created: 18 Dec 2017, 3:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
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: 3

Added Tag

Sarah Leigh (Genomics England Curator)

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

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to IARS.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

4 Jan 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

IARS was added to Intellectual disability panel. Sources: Expert Review Green

4 Jan 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

IARS was created by Sarah Leigh