BMPR1B

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

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber BMPR1B in Primary ovarian insufficiency Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Premature Ovarian Insufficiency
Red BMPR1B in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.34	review	Not set	Sources Emory Genetics Laboratory
Green BMPR1B in Limb disorders Version 4.23 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Review Green London South East RGC GSTT Viapath Phenotypes Acromesomelic dysplasia, Demirhan type, OMIM:609441 Brachydactyly, type A1, D, OMIM:616849 Brachydactyly, type A2, OMIM:112600
Red BMPR1B in Pulmonary arterial hypertension Level 3: Pulmonary heart disease Level 2: Cardiovascular disorders Version 3.5 Latest signed off version: v3.0 (30 Nov 2022)	review	Unknown	Sources Expert Review Red Literature Phenotypes Idiopathic pulmonary arterial hypertension IPAH
Green BMPR1B in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.65 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Expert list Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Acromesomelic dysplasia, Demirhan type, OMIM:609441 Brachydactyly, type A1, D, OMIM:616849 Brachydactyly, type A2, OMIM:112600
Green BMPR1B in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Acromesomelic dysplasia, Demirhan type, OMIM:609441
No list BMPR1B in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature Tags curated_removed
Green BMPR1B in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRACHYDACTYLY TYPE A2 112600
Red BMPR1B in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Acromesomelic dysplasia, Demirhan type, OMIM:609441 Brachydactyly, type A1, D, OMIM:616849 Brachydactyly, type A2, OMIM:112600
Amber BMPR1B in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Ocular coloboma Tags Q4_23_promote_green Q4_23_NHS_review
Green BMPR1B in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Acromesomelic dysplasia, Demirhan type, 609441 Brachydactyly, type A2, 112600 Brachydactyly, type A1, D, 616849