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  3. HARS
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Structural eye disease

Gene: HARS

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

3 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for HARS is HARS1
Created: 6 Sep 2019, 2:46 p.m. | Last Modified: 6 Sep 2019, 2:46 p.m.
Panel Version: 0.84
Created: 6 Sep 2019, 2:46 p.m.
Last Modified: 6 Sep 2019, 2:46 p.m.
Panel version: 0.84

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Usher syndrome type 3B; Charcot-Marie-Tooth disease, axonal, type 2W; 614504; 616625

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Usher syndrome type 3B, 614504; Charcot-Marie-Tooth disease, axonal, type 2W, 616625

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Usher syndrome type 3B, 614504
  • Charcot-Marie-Tooth disease, axonal, type 2W, 616625
  • Eye Disorders
Tags
new-gene-name
OMIM
142810
Clinvar variants
Variants in HARS
Penetrance
None
Panels with this gene

History Filter Activity

22 Feb 2022, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: HARS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

6 Sep 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

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

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HARS. Mode of inheritance for gene HARS was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Usher syndrome type 3B, 614504; Charcot-Marie-Tooth disease, axonal, type 2W, 616625 for gene: HARS

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: HARS was added gene: HARS was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: HARS was set to Phenotypes for gene: HARS were set to Eye Disorders