Primary ovarian insufficiency

Gene: HARS2

Amber List (moderate evidence)

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

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Perrault syndrome 2, 614926
OMIM
600783
Clinvar variants
Variants in HARS2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

22 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

22 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 May 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

HARS2 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature

19 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

HARS2 was created by arianna