Glaucoma (developmental)
Gene: HARS
HARS (histidyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000170445
EnsemblGeneIds (GRCh37): ENSG00000170445
OMIM: 142810, Gene2Phenotype
HARS is in 9 panels
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 HARS1Created: 6 Sep 2019, 2:48 p.m. | Last Modified: 6 Sep 2019, 2:48 p.m.
Panel Version: 1.5
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 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
Ivone Leong (Genomics England Curator)
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 diseaseCreated: 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
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- Tags
- OMIM
- 142810
- Clinvar variants
- Variants in HARS
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
6 Sep 2019, Gel status: 1
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: HARS.
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)HARS was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory