Structural eye disease
Gene: BMPR1BEnsemblGeneIds (GRCh38): ENSG00000138696
EnsemblGeneIds (GRCh37): ENSG00000138696
OMIM: 603248, Gene2Phenotype
BMPR1B is in 10 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 1:56 p.m. | Last Modified: 2 May 2024, 1:56 p.m.
Panel Version: 3.79
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sarah Leigh (Genomics England Curator)
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 17 Oct 2023, 2:47 p.m. | Last Modified: 17 Oct 2023, 2:47 p.m.
Panel Version: 3.28
Comment on phenotypes: Ocular coloboma has yet to be associated with OMIM:609441, OMIM:616849 or OMIM:112600.Created: 17 Oct 2023, 2:46 p.m. | Last Modified: 17 Oct 2023, 2:46 p.m.
Panel Version: 3.27
BMPR1B variants have been associated with OMIM:609441, OMIM:616849 and OMIM:112600, however, these phenotypes do not include Ocular coloboma to date. PMID: 35034853 reports four monoallelic BMPR1B variants in four cases whose phenotype includes ocular coloboma. The authors also present supportive bmpr1ba/b knockdown experiments in zebrafish, which revealed a coloboma and/or microphthalmia phenotype.Created: 17 Oct 2023, 2:44 p.m. | Last Modified: 17 Oct 2023, 2:44 p.m.
Panel Version: 3.26
Hannah Knight (NIHR BioResource - University of Cambridge)
Four unrelated families with BMPR1B variants reported:
1. Two affected siblings with bilateral optic disc coloboma. Mother confirmed heterozygote - NM_001203.2:c.272G>T, p.(Arg91Ile)
2. Single proband with unilateral right microphthalmia, right dense cataract and persistent hyperplastic primary vitreous. No family history. De novo variant - NM_001203.2:c.1127G>A, p.(Arg376Glu)
3. Patient with bilateral iris and chorioretinal coloboma - c.671G>A, p.(Arg224His)
4. Patient with right iris and bilateral chorioretinal coloboma - c.671G>T, p.(Arg224Leu)
Sources: LiteratureCreated: 12 Sep 2023, 11:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ocular coloboma
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Ocular coloboma
- OMIM
- 603248
- Clinvar variants
- Variants in BMPR1B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: BMPR1B. Tag Q4_23_NHS_review was removed from gene: BMPR1B.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to BMPR1B. Source Expert Review Green was added to BMPR1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: BMPR1B. Tag Q4_23_NHS_review tag was added to gene: BMPR1B.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: BMPR1B were changed from Ocular coloboma to Ocular coloboma
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Hannah Knight (NIHR BioResource - University of Cambridge)gene: BMPR1B was added gene: BMPR1B was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMPR1B were set to 35034853 Phenotypes for gene: BMPR1B were set to Ocular coloboma Review for gene: BMPR1B was set to GREEN