Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: BMPR1BEnsemblGeneIds (GRCh38): ENSG00000138696
EnsemblGeneIds (GRCh37): ENSG00000138696
OMIM: 603248, Gene2Phenotype
BMPR1B is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A homozygous truncating variant in a syndromic case with hypergonadic hypogonadism as a feature of the condition. Two unrelated POI cases with a heterozygous missense variant (p.Arg254His and p.Phe272Leu). In vitro functional assay data demonstrating p.Phe272Leu alters BMP signalling.
Sources: LiteratureCreated: 26 Nov 2021, 5:10 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Acromesomelic dysplasia 3 MIM#609441; primary ovarian insufficiency
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Acromesomelic dysplasia 3 MIM#609441
- primary ovarian insufficiency
- OMIM
- 603248
- Clinvar variants
- Variants in BMPR1B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Anophthalmia_Microphthalmia_Coloboma
- Skeletal dysplasia
- Fetal anomalies
- Prepair 1000+
- Mendeliome
- Pulmonary Arterial Hypertension
- Interstitial Lung Disease
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Hand and foot malformations
- Pierre Robin Sequence
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: BMPR1B was added gene: BMPR1B was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: BMPR1B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: BMPR1B were set to 34794894; 15805157; 28505269; 31769494 Phenotypes for gene: BMPR1B were set to Acromesomelic dysplasia 3 MIM#609441; primary ovarian insufficiency Review for gene: BMPR1B was set to AMBER