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Intellectual disability

Gene: HARS

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HARS (histidyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000170445
EnsemblGeneIds (GRCh37): ENSG00000170445
OMIM: 142810, Gene2Phenotype
HARS is in 8 panels

1 review

Zornitza Stark (Australian Genomics)

I don't know

3 cases from 2 unrelated families with biallelic variants and mild to severe intellectual disability as a feature of the condition. We have also added to paediatric ataxia panel as Amber.

Please note association with Usher syndrome (deafness/retinal phenotypes) has been assessed as 'refuted' by ClinGen, and this gene has a well-established association between heterozygous variants and CMT.
Sources: Literature
Created: 1 Jul 2020, 10:54 a.m. | Last Modified: 1 Jul 2020, 10:54 a.m.
Panel Version: 3.126

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
multisystem ataxic syndrome; mild-severe intellectual disability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • multisystem ataxic syndrome
  • mild-severe intellectual disability
OMIM
142810
Clinvar variants
Variants in HARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: HARS was added gene: HARS was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HARS were set to 32296180 Phenotypes for gene: HARS were set to multisystem ataxic syndrome; mild-severe intellectual disability Review for gene: HARS was set to AMBER