Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: BMPR2

BMPR2 (bone morphogenetic protein receptor type 2)
EnsemblGeneIds (GRCh38): ENSG00000204217
EnsemblGeneIds (GRCh37): ENSG00000204217
OMIM: 600799, Gene2Phenotype
BMPR2 is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

PMID: 33095795 - 1 POI case with missense p.Val453Met
PMID: 28306340, 25989972 - 1 POI case with p.Ser987Phe (unaffected mother also has the variant), and in vitro functional assays demonstrating a significant increase in protein-like aggregation patterns in the endoplasmic reticulum. However, there are 24 hets for the variant in gnomAD v2.1
Sources: Literature
Created: 29 Nov 2021, 4:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary ovarian insufficiency

Publications

Created: 29 Nov 2021, 4:10 a.m.

Panel version: 0.230

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Literature

Phenotypes

Primary ovarian insufficiency

OMIM

600799

Clinvar variants

Variants in BMPR2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: bmpr2 has been classified as Red List (Low Evidence).

29 Nov 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes