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 0.447	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 1.71	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 1.2655	review	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 0.310	review	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	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Left-right axis malformation
Red ACVR2B in Fetal anomalies Version 1.370	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 1.121	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Left-right axis malformation