Primary ovarian insufficiency
Gene: FSHRClear association with hypergonadotropic ovarian failure/POICreated: 9 Jun 2017, 2:54 p.m.
Comment when marking as ready: Marked as green as associated with the phenotype in OMIMCreated: 22 May 2017, 8:54 a.m.
Biallelic mutations described in both primary and secondary amenorrhea, more common in the Finnish populationCreated: 27 Apr 2017, 3:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ovarian dysgenesis 1 233300; Ovarian response to FSH stimulation 276400
This gene is also on The University of Chicago Genetic Services Laboratories Next Generation Sequencing Panel for Premature Ovarian Failure.Created: 13 Jun 2016, 2:39 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).
Phenotypes for FSHR were set to Ovarian dysgenesis 1 233300; Ovarian response to FSH stimulation 276400
This gene has been classified as Green List (High Evidence).
FSHR was added to Early onset familial premature ovarian insufficiencypanel. Source: Other Model of inheritance for gene FSHR was set to BIALLELIC, autosomal or pseudoautosomal
FSHR was added to Early onset familial premature ovarian insufficiencypanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene FSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
FSHR was created by ellenmcdonagh
FSHR was added to Early onset familial premature ovarian insufficiencypanel. Sources: Radboud University Medical Center, Nijmegen