1. Panels
  2. Anophthalmia_Microphthalmia_Coloboma
  3. BMPR1B
STRs in panel
Prev Next
Regions in panel
Prev Next

Anophthalmia_Microphthalmia_Coloboma

Gene: BMPR1B

Green List (high evidence)
BMPR1B (bone morphogenetic protein receptor type 1B)
EnsemblGeneIds (GRCh38): ENSG00000138696
EnsemblGeneIds (GRCh37): ENSG00000138696
OMIM: 603248, Gene2Phenotype
BMPR1B is in 11 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

4 unrelated families with AD coloboma
Sources: Literature
Created: 5 May 2022, 1:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
coloboma MONDO#0001476, BMPR1B-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 May 2022, 1:44 a.m.

Panel version: 1.18

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • coloboma MONDO#0001476, BMPR1B-related
OMIM
603248
Clinvar variants
Variants in BMPR1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: bmpr1b has been classified as Green List (High Evidence).

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: bmpr1b has been classified as Green List (High Evidence).

5 May 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

gene: BMPR1B was added gene: BMPR1B was added to Anophthalmia_Microphthalmia_Coloboma. 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 coloboma MONDO#0001476, BMPR1B-related gene: BMPR1B was marked as current diagnostic