1. Panels
  2. Hereditary Neuropathy - complex
  3. IARS2
Regions in panel
Prev Next

Hereditary Neuropathy - complex

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: NHS GMS
Created: 1 Apr 2020, 8:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 1 Apr 2020, 8:36 a.m.

Panel version: 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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

1 Apr 2020, 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).

1 Apr 2020, 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).

1 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IARS2 was added gene: IARS2 was added to Hereditary Neuropathy - complex. Sources: NHS GMS Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS2 were set to 28328135; 30419932; 25130867; 30041933 Phenotypes for gene: IARS2 were set to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007 Review for gene: IARS2 was set to GREEN