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  3. HARS
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Deafness_IsolatedAndComplex

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, 1:14 a.m. | Last Modified: 31 Dec 2019, 1:14 a.m.
Panel Version: 0.67

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome type 3B, MIM# 614504

Publications

Created: 31 Dec 2019, 1:14 a.m.
Last Modified: 31 Dec 2019, 1:14 a.m.
Panel version: 0.67

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome type 3B, MIM# 614504
OMIM
142810
Clinvar variants
Variants in HARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HARS were set to 22279524

31 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HARS were changed from Usher syndrome type 3B, MIM# 614504 to Usher syndrome type 3B, MIM# 614504

31 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

31 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HARS were changed from to Usher syndrome type 3B, MIM# 614504

31 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HARS were set to

31 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HARS was added gene: HARS was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: HARS was set to Unknown