Pierre Robin Sequence
Gene: BMPR1BEnsemblGeneIds (GRCh38): ENSG00000138696
EnsemblGeneIds (GRCh37): ENSG00000138696
OMIM: 603248, Gene2Phenotype
BMPR1B is in 11 panels
1 review
Tiong Tan (Victorian Clinical Genetics Services)
Two unrelated families reported with lesions predicted to affect BMPR1B: translocation with deletion of two genes one of which was BMPR1B and a canonical splice site variant. Both genomic lesions segregated with the PRS phenotype in both families.
Sources: LiteratureCreated: 25 May 2020, 1:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PRS; pectus excavatum; radioulnar synostosis
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- PRS
- pectus excavatum
- radioulnar synostosis
- OMIM
- 603248
- Clinvar variants
- Variants in BMPR1B
- Penetrance
- unknown
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: bmpr1b has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tiong Tan (Victorian Clinical Genetics Services)gene: BMPR1B was added gene: BMPR1B was added to Pierre Robin Sequence. Sources: Literature Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMPR1B were set to 28418932 Phenotypes for gene: BMPR1B were set to PRS; pectus excavatum; radioulnar synostosis Penetrance for gene: BMPR1B were set to unknown Review for gene: BMPR1B was set to AMBER