Microcephaly
Gene: IARSEnsemblGeneIds (GRCh38): ENSG00000196305
EnsemblGeneIds (GRCh37): ENSG00000196305
OMIM: 600709, Gene2Phenotype
IARS is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Microcephaly -3 to -5SD is part of the phenotype of this autosomal recessive multisystem disorder characterised by poor overall growth, impaired intellectual development, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present. At least 4 families reported. Note HGNC approved name is IARS1.
Sources: Expert listCreated: 1 Sep 2020, 10:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM# 617093
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM# 617093
- Tags
- OMIM
- 600709
- Clinvar variants
- Variants in IARS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: iars has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag new gene name tag was added to gene: IARS.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: iars has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IARS was added gene: IARS was added to Microcephaly. Sources: Expert list Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS were set to 27426735; 27891590 Phenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM# 617093 Review for gene: IARS was set to GREEN