Paediatric disorders - additional genes
Gene: IARSAdded new-gene-name tag, new approved HGNC gene symbol for IARS is IARS1Created: 6 Sep 2019, 2:10 p.m. | Last Modified: 6 Sep 2019, 2:10 p.m.
Panel Version: 0.30
"New gene name" tag added, the new gene name is IARS1.Created: 5 Aug 2019, 1:35 p.m. | Last Modified: 5 Aug 2019, 1:35 p.m.
Panel Version: 0.22
Helen Brittain reviewed IARS on the 'Intellectual disability' panel' and notes: Early presentation with hypotonia and global delay.Created: 19 Jul 2019, 12:58 p.m. | Last Modified: 19 Jul 2019, 12:58 p.m.
Panel Version: 0.21
DD-G2P Disease confidence rating of 'probable' for 'Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy', but sufficient cases from the literature to support Green rating. As reviewed by Louise Daugherty on the 'Intellectual disability' panel: Kopajtich et al., 2016 PMID:27426735 reported 3 unrelated patients with a multisystem disorder characterized by intrauterine and postnatal growth retardation, including small head circumference (-3 to -5 SD), hypotonia and delayed psychomotor development with variable severity of intellectual disability.Created: 19 Jul 2019, 12:57 p.m. | Last Modified: 19 Jul 2019, 12:57 p.m.
Panel Version: 0.21
Added to 'Paediatric disorders - additional genes' panel on recommendation of Genomics England clinical team.
Sources: OtherCreated: 19 Jul 2019, 12:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
Publications
Tag new-gene-name tag was added to gene: IARS.
Publications for gene: IARS were set to 27426735
Gene: iars has been classified as Green List (High Evidence).
gene: IARS was added gene: IARS was added to Paediatric disorders - additional genes. Sources: Other Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS were set to 27426735 Phenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093