Severe microcephaly

Gene: IARS

Green List (high evidence)

IARS (isoleucyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000196305
EnsemblGeneIds (GRCh37): ENSG00000196305
OMIM: 600709, Gene2Phenotype
IARS is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093
  • Microcephaly
OMIM
600709
Clinvar variants
Variants in IARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for IARS were set to Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093; Microcephaly

19 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

IARS was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum panel. Sources: Other

19 Dec 2017, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

IARS was created by Louise Daugherty