Severe microcephaly

Gene: IARS

"New gene name" tag added, the new gene name is IARS1.

Created: 5 Aug 2019, 1:34 p.m. | Last Modified: 5 Aug 2019, 1:34 p.m.

Panel Version: 1.67

I don't know

Added new-gene-name tag, new approved HGNC gene symbol for IARS is IARS1

Created: 6 Sep 2019, 2:10 p.m. | Last Modified: 6 Sep 2019, 2:10 p.m.

Panel Version: 1.72

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green

Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.

Panel Version: 1.62

Comment on phenotypes: added Microcephaly to the phenotype

Created: 19 Dec 2017, 12:22 p.m.

Comment on list classification: changed from red to green - enough evidence in the literature to support the phenotype

Created: 19 Dec 2017, 12:20 p.m.

Added from Intellectual disability panel update as gene is also relevant to this panel

Created: 19 Dec 2017, 12:19 p.m.

Probable gene in Developmental Disorders Genotype-Phenotype Database (DDG2P) for Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. 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 Dec 2017, 12:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093

Publications

• 27426735