Hand and foot malformations
Gene: BMPR1B
BMPR1B (bone morphogenetic protein receptor type 1B)
EnsemblGeneIds (GRCh38): ENSG00000138696
EnsemblGeneIds (GRCh37): ENSG00000138696
OMIM: 603248, Gene2Phenotype
BMPR1B is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000138696
EnsemblGeneIds (GRCh37): ENSG00000138696
OMIM: 603248, Gene2Phenotype
BMPR1B is in 11 panels
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Acromesomelic dysplasia, Demirhan type 609441
- Brachydactyly, type A1, D 616849
- Brachydactyly, type A2 112600
- OMIM
- 603248
- Clinvar variants
- Variants in BMPR1B
- Penetrance
- None
- 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
22 Sep 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: BMPR1B was added gene: BMPR1B was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: BMPR1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: BMPR1B were set to Acromesomelic dysplasia, Demirhan type 609441; Brachydactyly, type A1, D 616849; Brachydactyly, type A2 112600