Possible mitochondrial disorder - nuclear genes
Gene: IARS2EnsemblGeneIds (GRCh38): ENSG00000067704
EnsemblGeneIds (GRCh37): ENSG00000067704
OMIM: 612801, Gene2Phenotype
IARS2 is in 9 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007
Zornitza Stark (Australian Genomics)
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)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007
- OMIM
- 612801
- Clinvar variants
- Variants in IARS2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: IARS2 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: IARS2 was added gene: IARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS 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, 616007