Mitochondrial disorders
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
Tag new-gene-name was removed from gene: IARS2.
Tag new-gene-name tag was added to gene: IARS2.
Gene: iars2 has been classified as Green List (High Evidence).
Gene: iars2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: IARS2 were changed from No OMIM phenotype; CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S) to ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 616007
Publications for gene: IARS2 were set 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).
Victorian Clinical Genetics Services was added to IARS2. Panel: Mitochondrial disorders
This gene has been classified as Amber List (Moderate Evidence).
Publications for IARS2 were set 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).
Publications for IARS2 were set 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)
Phenotypes for IARS2 were set to No OMIM phenotype; CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S);
Publications for IARS2 were set to PMID: 25130867
Mode of inheritance for IARS2 was changed to BIALLELIC, autosomal or pseudoautosomal
IARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen