Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: BMPR1A

Amber List (moderate evidence)

BMPR1A (bone morphogenetic protein receptor type 1A)
EnsemblGeneIds (GRCh38): ENSG00000107779
EnsemblGeneIds (GRCh37): ENSG00000107779
OMIM: 601299, Gene2Phenotype
BMPR1A is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two POI cases reported with 2 different missense variants (p.Arg442His, p.Tyr425Cys). Arg442His has supporting in vitro functional evidence. Bmpr1a conditional knockout female mice are subfertile with reduced spontaneous ovulation. No POI reported in association with juvenile polyposis syndrome, which is caused by heterozygous variants in BMPR1A.
Sources: Literature
Created: 29 Nov 2021, 3:53 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary ovarian insufficiency

Publications

Details

History Filter Activity

29 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: bmpr1a has been classified as Amber List (Moderate Evidence).

29 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: bmpr1a has been classified as Amber List (Moderate 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: BMPR1A was added gene: BMPR1A was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMPR1A were set to 28505269; 34794894; 31769494; 20363875 Phenotypes for gene: BMPR1A were set to Primary ovarian insufficiency Review for gene: BMPR1A was set to AMBER