BMPR1B

bone morphogenetic protein receptor type 1B
OMIM: 603248, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green BMPR1B in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.39	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes coloboma MONDO#0001476, BMPR1B-related
Amber BMPR1B in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Childhood pulmonary arterial hypertension
Green BMPR1B in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acromesomelic dysplasia, Demirhan type, MIM# 609441 Brachydactyly, type A1, D, MIM# 616849 Brachydactyly, type A2, MIM# 112600 coloboma MONDO#0001476, BMPR1B-related
Amber BMPR1B in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.47	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes PRS pectus excavatum radioulnar synostosis
Green BMPR1B in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Brachydactyly, type A1, D 616849 Acromesomelic dysplasia, Demirhan type 609441 Brachydactyly, type A2 112600
Red BMPR1B in Pulmonary Arterial Hypertension Level 2: Cardiovascular disorders Version 1.39	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Pulmonary arterial hypertension Tags disputed
Green BMPR1B in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive
Amber BMPR1B in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.328	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Acromesomelic dysplasia 3 MIM#609441 primary ovarian insufficiency
Green BMPR1B in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	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
Green BMPR1B in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Acromesomelic dysplasia, Demirhan type, MIM# 609441
Green BMPR1B in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive