Primary ovarian insufficiency
Gene: HARS2

HARS2 (histidyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000112855
EnsemblGeneIds (GRCh37): ENSG00000112855
OMIM: 600783, Gene2Phenotype
HARS2 is in 7 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Amber to Green. This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is now enough evidence to support a gene-disease association. Therefore this gene has been promoted to Green.
Created: 14 Sep 2021, noon | Last Modified: 14 Sep 2021, noon

Panel Version: 1.47

Created: 14 Sep 2021, noon
Last Modified: 14 Sep 2021, noon
Panel version: 1.47

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

multiple independent families now described with Perrault syndrome due to biallelic variants in this gene
Created: 31 Aug 2021, 1:20 p.m. | Last Modified: 31 Aug 2021, 1:20 p.m.

Panel Version: 1.44

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
sensorineural hearing loss; primary ovarian insufficiency

Publications

(PMID:34406847
34338890)

Created: 31 Aug 2021, 1:20 p.m.
Last Modified: 31 Aug 2021, 1:20 p.m.
Panel version: 1.44

Arianna Tucci (Genomics England Curator)

I don't know

Comment when marking as ready: Marked as amber as only one family reported
Created: 22 May 2017, 9:36 a.m.

Biallelic mutations described in one family with Perrault syndrome
Created: 19 May 2017, 2:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 2, 614926

Publications

21464306

Created: 19 May 2017, 2:04 p.m.

Panel version: 0.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Perrault syndrome 2, OMIM:614926

OMIM

600783

Clinvar variants

Variants in HARS2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

14 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Sep 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, 614926 to Perrault syndrome 2, OMIM:614926

14 Sep 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: HARS2 were set to 21464306

31 May 2017, Gel status: 2