Retinal disorders

Gene: HARS

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.

Panel Version: 2.243

This gene has been tagged with "for-review" to ensure that this is flagged for the next review by the GMS specialist group on whether this gene is appropriate to be included for this panel based on the refuted association by ClinGen.

Created: 8 Jan 2021, 2:28 p.m. | Last Modified: 8 Jan 2021, 2:28 p.m.

Panel Version: 2.117

Red List (low evidence)

Two individuals from Amish background reported originally; gene-disease association assessed as REFUTED by ClinGen.

Created: 11 Oct 2020, 3:50 a.m. | Last Modified: 11 Oct 2020, 3:50 a.m.

Panel Version: 2.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome type 3B, MIM# 614504

Publications

• 22279524

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: 1.161

Green List (high evidence)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.

Created: 2 Jun 2016, 8:04 a.m.

Comment on mode of inheritance: Biallelic for Usher syndrome (Sources: OMIM, G2P). Monoallelic for Charcot-Marie Tooth disease.

Created: 22 Mar 2016, 12:38 p.m.