Structural eye disease
Gene: BMPR1BComment 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
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
Tag Q4_23_promote_green tag was added to gene: BMPR1B. Tag Q4_23_NHS_review tag was added to gene: BMPR1B.
Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: BMPR1B were changed from Ocular coloboma to Ocular coloboma
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