Primary ovarian insufficiency
Gene: HARS2Comment 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
multiple independent families now described with Perrault syndrome due to biallelic variants in this geneCreated: 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
Comment when marking as ready: Marked as amber as only one family reportedCreated: 22 May 2017, 9:36 a.m.
Biallelic mutations described in one family with Perrault syndromeCreated: 19 May 2017, 2:04 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 2, 614926
Publications
Gene: hars2 has been classified as Green List (High Evidence).
Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, 614926 to Perrault syndrome 2, OMIM:614926
Publications for gene: HARS2 were set to 21464306
Promoting to Version 1 on 31-05-2017, after internal curation and review.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
HARS2 was created by arianna
HARS2 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature