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Inborn errors of metabolism

Gene: IARS2

Green List (high evidence)

IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000067704
EnsemblGeneIds (GRCh37): ENSG00000067704
OMIM: 612801, Gene2Phenotype
IARS2 is in 9 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on additional variants in publications reported by Zornitza Stark (Australian Genomics).
Created: 9 Jul 2019, 4:16 p.m. | Last Modified: 9 Jul 2019, 4:16 p.m.
Panel Version: 1.404
Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 2 variants reported, together with supportive functional studies.
Created: 24 Jun 2019, 3:39 p.m. | Last Modified: 24 Jun 2019, 3:39 p.m.
Panel Version: 1.399
Comment on phenotypes: ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 616007, also known as CAGSSS
Created: 24 Jun 2019, 3:30 p.m. | Last Modified: 24 Jun 2019, 3:30 p.m.
Panel Version: 1.398
Comment on publications: PMID: 25130867 (3 related cases with CAGSSS homozygous for a rare nonsynonymous variant in this gene, an unrelated case with Leigh syndrome compound heterozygous for variants within this gene)
PMID: 27078007 reports the phenotypical classification of case of Infantile Cataract, Congenital Neurotrophic Keratitis, and Orbital Myopathy in one of the cases mentioned in PMID: 25130867.
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Created: 24 Jun 2019, 3:05 p.m. | Last Modified: 24 Jun 2019, 3:21 p.m.
Panel Version: 1.397

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note additional recent publications reporting further patients with bi-allelic variants in this gene.
Created: 30 Aug 2018, 5:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • No OMIM phenotype
OMIM
612801
Clinvar variants
Variants in IARS2
Penetrance
None
Publications
  • PMID: 25130867 (3 related cases with CAGSSS homozygous for a rare nonsynonymous variant in this gene, an unrelated case with Leigh syndrome compound heterozygous for variants within this gene)
  • PMID: 27078007 (full text not available to confirm findings).
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to IARS2. Source London North GLH was added to IARS2.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S); No OMIM phenotype for gene: IARS2 Publications for gene IARS2 were changed from 27604308; 25130867; 27078007 to PMID: 25130867 (3 related cases with CAGSSS homozygous for a rare nonsynonymous variant in this gene, an unrelated case with Leigh syndrome compound heterozygous for variants within this gene); PMID: 27078007 (full text not available to confirm findings).

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: IARS2 was added gene: IARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS2 were set to 27604308; 25130867; 27078007 Phenotypes for gene: IARS2 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))