Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: BMP8B
BMP8B (bone morphogenetic protein 8b)
EnsemblGeneIds (GRCh38): ENSG00000116985
EnsemblGeneIds (GRCh37): ENSG00000116985
OMIM: 602284, Gene2Phenotype
BMP8B is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000116985
EnsemblGeneIds (GRCh37): ENSG00000116985
OMIM: 602284, Gene2Phenotype
BMP8B is in 1 panel
1 review
Bryony Thompson (Royal Melbourne Hospital)
Two heterozygous POI cases, one with p.Met342Val which has 32 hets in gnomAD v2.1 and p.Arg260Cys which has 642 hets in gnomAD v2.1. Both more common than expected for Mendelian disease. Knockout mouse models have defective primordial germ cell formation.
Sources: LiteratureCreated: 28 Nov 2021, 11:15 p.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
- 602284
- Clinvar variants
- Variants in BMP8B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
28 Nov 2021, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: bmp8b has been classified as Red List (Low Evidence).
28 Nov 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: BMP8B was added gene: BMP8B was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: BMP8B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP8B were set to 34794894; 33095795; 10894154; 22579288 Phenotypes for gene: BMP8B were set to Primary ovarian insufficiency Review for gene: BMP8B was set to RED