Likely inborn error of metabolism - targeted testing not possible
Gene: IARS2Comment 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 CAGSSSCreated: 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.
.Created: 24 Jun 2019, 3:05 p.m. | Last Modified: 24 Jun 2019, 3:21 p.m.
Panel Version: 1.397
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
Source NHS GMS was added to IARS2. Source London North GLH was added to IARS2.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S); No OMIM phenotype for gene: IARS2 Publications for gene IARS2 were changed from 27604308; 25130867; 27078007 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).
gene: IARS2 was added gene: IARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS2 were set to 27604308; 25130867; 27078007 Phenotypes for gene: IARS2 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))