Primary ovarian insufficiency
Gene: NR5A1
More commonly associated with DSD/adrenal insufficiencyCreated: 9 Jun 2017, 3:25 p.m.
Comment when marking as ready: Marked as green as associated to the phenotype in OMIM; more than 3 variants reportedCreated: 30 May 2017, 12:17 p.m.
Associated with phenotype in OMIM; more than 3 variants reported. Mutations in NR5A1 also described in disorders of sexual development and adrenal insufficiencyCreated: 11 May 2017, 9:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Premature ovarian failure 7, 612964
Publications
This gene is also on The University of Chicago Genetic Services Laboratories Next Generation Sequencing Panel for Premature Ovarian Failure.Created: 13 Jun 2016, 2:40 p.m.
Promoting to Version 1 on 31-05-2017, after internal curation and review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
NR5A1 was added to Early onset familial premature ovarian insufficiencypanel. Source: Other
NR5A1 was added to Early onset familial premature ovarian insufficiencypanel. Source: Radboud University Medical Center, Nijmegen
NR5A1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list
NR5A1 was created by ellenmcdonagh