Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: AMHR2

I don't know

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

• 34794894
• 31291191
• 24912417
• 27430550

Red List (low evidence)

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

• 24912417
• 24146295