Mitochondrial disease
Gene: IARS2
IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000067704
EnsemblGeneIds (GRCh37): ENSG00000067704
OMIM: 612801, Gene2Phenotype
IARS2 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000067704
EnsemblGeneIds (GRCh37): ENSG00000067704
OMIM: 612801, Gene2Phenotype
IARS2 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
CAGSSS, which comprises cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, is an autosomal recessive multisystemic disorder with a highly variable phenotypic spectrum. The skeletal features are consistent with spondyloepimetaphyseal dysplasia (SEMD).
More than 5 unrelated families reported.Created: 14 Mar 2022, 8:27 a.m. | Last Modified: 14 Mar 2022, 8:27 a.m.
Panel Version: 0.11351
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
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 612801
- Clinvar variants
- Variants in IARS2
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IARS2 was added gene: IARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: IARS2 was set to Unknown