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Mitochondrial disorders

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
Created: 24 Jun 2019, 3:05 p.m.
Last Modified: 24 Jun 2019, 3:21 p.m.
Panel version: 1.455

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

Created: 30 Aug 2018, 5:14 a.m.

Panel version: 1.67

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 616007
OMIM
612801
Clinvar variants
Variants in IARS2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Aug 2019, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag new-gene-name was removed from gene: IARS2.

5 Aug 2019, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag new-gene-name tag was added to gene: IARS2.

9 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: iars2 has been classified as Green List (High Evidence).

24 Jun 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: iars2 has been classified as Amber List (Moderate Evidence).

24 Jun 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: IARS2 were changed from No OMIM phenotype; CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S) to ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 616007

24 Jun 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: IARS2 were set 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).

28 Aug 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to IARS2. Panel: Mitochondrial disorders

20 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

20 Apr 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for IARS2 were set 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).

20 Apr 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for IARS2 were set 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)

20 Apr 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for IARS2 were set to No OMIM phenotype; CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S);

20 Apr 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for IARS2 were set to PMID: 25130867

20 Apr 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for IARS2 was changed to BIALLELIC, autosomal or pseudoautosomal

30 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

IARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen