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Intellectual disability syndromic and non-syndromic

Gene: HARS

Amber List (moderate evidence)

HARS (histidyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000170445
EnsemblGeneIds (GRCh37): ENSG00000170445
OMIM: 142810, Gene2Phenotype
HARS is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Please note this is the correct PMID for this disease association
Created: 27 Aug 2020, 7:56 p.m. | Last Modified: 27 Aug 2020, 7:56 p.m.
Panel Version: 0.2881

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
multisystem ataxic syndrome; mild-severe intellectual disability

Publications

Bryony Thompson (Royal Melbourne Hospital)

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.
Sources: Literature
Created: 25 Jun 2020, 3:40 a.m.

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
  • Expert Review Amber
  • Literature
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

27 Aug 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HARS were set to 32296180

25 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hars has been classified as Amber List (Moderate Evidence).

25 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hars has been classified as Amber List (Moderate Evidence).

25 Jun 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HARS was added gene: HARS was added to Intellectual disability syndromic and non-syndromic. 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