ACVR2B

activin A receptor type 2B
OMIM: 602730, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red ACVR2B in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.474	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 4, autosomal 613751
Red ACVR2B in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.94	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 4, autosomal 613751 Tags disputed
Red ACVR2B in Mendeliome Version 1.3499	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 4, autosomal 613751
Red ACVR2B in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	2 reviews	Unknown	Sources Expert Review Red Expert Review Red Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 4, autosomal 613751
Red ACVR2B in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Left-right axis malformation
Red ACVR2B in Fetal anomalies Version 1.465	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 4, autosomal 613751
Red ACVR2B in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Left-right axis malformation