Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: BMPR2

Red List (low evidence)

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

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

Bryony Thompson (Royal Melbourne Hospital)

gene: BMPR2 was added gene: BMPR2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMPR2 were set to 34794894; 33095795; 28306340; 25989972 Phenotypes for gene: BMPR2 were set to Primary ovarian insufficiency Review for gene: BMPR2 was set to RED