Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: AMHR2
PMID: 31291191 - 1 case with normosmic congenital hypogonadotropic hypogonadism with p.Gly445_Leu453del, which had decreased function in in vitro functional assays but has 114 hets in gnomAD v2.1. Amhr2-deficient mice showed defective embryonic migration of the neuroendocrine GnRH cells to the basal forebrain, which resulted in reduced fertility in adults.
PMID: 24912417, 27430550 - 3 idiopathic POI cases with 3 different rare missense variants (p.Ala17Glu, p.Ile209Asn, p.Leu354Phe). Of the 3 missense, only I209N showed defective function in in vitro functional assays.Created: 29 Nov 2021, 3:16 a.m. | Last Modified: 29 Nov 2021, 3:16 a.m.
Panel Version: 0.225
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Primary ovarian insufficiency
Publications
Bi-allelic variants in this gene cause persistent Mullerian duct syndrome (phenotypically male, persistence of Mullerian structures).
Rare mono-allelic variants identified in cohorts of Chinese/Korean women with POF but pathogenicity and enrichment questionable.Created: 13 Dec 2020, 3:43 a.m. | Last Modified: 13 Dec 2020, 3:43 a.m.
Panel Version: 0.163
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Primary ovarian insufficiency
Publications
Gene: amhr2 has been classified as Amber List (Moderate Evidence).
Gene: amhr2 has been classified as Red List (Low Evidence).
Phenotypes for gene: AMHR2 were changed from to Primary ovarian insufficiency
Publications for gene: AMHR2 were set to
Mode of inheritance for gene: AMHR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: amhr2 has been classified as Red List (Low Evidence).
gene: AMHR2 was added gene: AMHR2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: AMHR2 was set to