Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: AMHR2

Amber List (moderate evidence)

AMHR2 (anti-Mullerian hormone receptor type 2)
EnsemblGeneIds (GRCh38): ENSG00000135409
EnsemblGeneIds (GRCh37): ENSG00000135409
OMIM: 600956, Gene2Phenotype
AMHR2 is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Primary ovarian insufficiency
OMIM
600956
Clinvar variants
Variants in AMHR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: amhr2 has been classified as Amber List (Moderate Evidence).

13 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: amhr2 has been classified as Red List (Low Evidence).

13 Dec 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AMHR2 were changed from to Primary ovarian insufficiency

13 Dec 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AMHR2 were set to

13 Dec 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AMHR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: amhr2 has been classified as Red List (Low Evidence).

17 Jun 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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