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  2. Ataxia and cerebellar anomalies - narrow panel
  3. HARS
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Ataxia and cerebellar anomalies - narrow panel

Gene: HARS

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

1 review

Arina Puzriakova (Genomics England Curator)

I don't know

Added new-gene-name tag, new approved HGNC gene symbol for HARS is HARS1
Created: 7 Sep 2020, 12:47 p.m. | Last Modified: 7 Sep 2020, 12:47 p.m.
Panel Version: 2.12
Comment on list classification: Relevant phenotype for this panel but additional cases required. Therefore, rating Amber in anticipation of further publications.
Created: 7 Sep 2020, 12:47 p.m. | Last Modified: 7 Sep 2020, 12:47 p.m.
Panel Version: 2.12
PMID: 32333447 (2020) - Three individuals from two unrelated families harbouring biallelic HARS variants. Manifestations included microcephaly, mild‐to severe ID, skeletal deformities, and ataxic broad base gait with clinical features affecting the cerebellar and pyramidal tract system. Some supportive functional analysis of the variants in skin fibroblasts and yeast.
Sources: Literature
Created: 7 Sep 2020, 12:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multisystem ataxic syndrome; Intellectual disability

Publications

Created: 7 Sep 2020, 12:43 p.m.

Panel version: 2.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Multisystem ataxic syndrome
  • Intellectual disability
Tags
new-gene-name
OMIM
142810
Clinvar variants
Variants in HARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: HARS.

7 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

7 Sep 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: HARS was added gene: HARS was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HARS were set to 32333447 Phenotypes for gene: HARS were set to Multisystem ataxic syndrome; Intellectual disability Review for gene: HARS was set to AMBER