Usher Syndrome

Gene: HARS

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two individuals from Amish background reported originally; gene-disease association assessed as REFUTED by ClinGen.
Created: 31 Dec 2019, 2:43 a.m. | Last Modified: 31 Dec 2019, 2:43 a.m.
Panel Version: 0.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome type 3B, MIM# 614504

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome type 3B
OMIM
142810
Clinvar variants
Variants in HARS
Penetrance
None
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hars has been classified as Red List (Low Evidence).

1 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hars has been classified as Red List (Low Evidence).

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HARS was added gene: HARS was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HARS were set to Usher syndrome type 3B