Deafness_Isolated
Gene: HARS2

HARS2 (histidyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000112855
EnsemblGeneIds (GRCh37): ENSG00000112855
OMIM: 600783, Gene2Phenotype
HARS2 is in 11 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

'Limited' by ClinGen Expert panel but new papers published since this was classified.
Created: 31 Dec 2019, 1:21 a.m. | Last Modified: 31 Dec 2019, 1:21 a.m.

Panel Version: 0.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome; autosomal recessive sensorineural hearing loss

Publications

Created: 31 Dec 2019, 1:21 a.m.
Last Modified: 31 Dec 2019, 1:21 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.72

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship

Phenotypes

Perrault syndrome 2, MIM# 614926

OMIM

600783

Clinvar variants

Variants in HARS2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hars2 has been classified as Green List (High Evidence).

21 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HARS2 was added gene: HARS2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HARS2 were set to 21464306; 27650058; 31486067; 31827252 Phenotypes for gene: HARS2 were set to Perrault syndrome 2, MIM# 614926

Deafness_Isolated Gene: HARS2