Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: GNRHR
Well established gene-disease association. Loss of function and dominant negative mechanisms described for missense variants (OMIM). Also, 1 consanguineous family with 3 sisters affected with polycystic ovary syndrome reported (PMID: 28348023).Created: 5 Mar 2020, 3:21 a.m. | Last Modified: 5 Mar 2020, 3:21 a.m.
Panel Version: 0.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110
Publications
Well established gene-disease association.
Loss of function and dominant negative mechanisms described for missense variants (OMIM).
Also, 1 consanguineous family with 3 sisters affected with polycystic ovary syndrome reported (PMID: 28348023).Created: 4 Mar 2020, 11:41 p.m. | Last Modified: 4 Mar 2020, 11:41 p.m.
Panel Version: 0.1627
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypogonadotropic hypogonadism 7 without anosmia, 146110
Publications
Gene: gnrhr has been classified as Green List (High Evidence).
Publications for gene: GNRHR were set to
gene: GNRHR was added gene: GNRHR was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNRHR were set to Hypogonadotropic hypogonadism 7 without anosmia 146110