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Prepair 1000+

Gene: IARS2

Green List (high evidence)

IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000067704
EnsemblGeneIds (GRCh37): ENSG00000067704
OMIM: 612801, Gene2Phenotype
IARS2 is in 6 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Onset in infancy, but features may appear over time (OMIM)
CAGSSS is associated with a wide phenotypic spectrum, with variable age of onset and clinical features (PMID: 30419932)
Created: 2 Dec 2024, 9:33 p.m. | Last Modified: 2 Dec 2024, 9:33 p.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#616007

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#616007
OMIM
612801
Clinvar variants
Variants in IARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IARS2 were changed from ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#616007

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IARS2 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IARS2 was added gene: IARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IARS2 were set to ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia