ACVR2B

activin A receptor type 2B
OMIM: 602730, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red ACVR2B in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.43

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Heterotaxy, visceral, 4, autosomal 613751

Red ACVR2B in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.21

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Heterotaxy, visceral, 4, autosomal 613751
Tags
  • disputed

Red ACVR2B in Mendeliome


Version 2.742

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Heterotaxy, visceral, 4, autosomal 613751

Red ACVR2B in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.160

2 reviews Unknown
Sources
  • Expert Review Red
  • Expert Review Red
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Disease associations
  • Heterotaxy, visceral, 4, autosomal 613751

Red ACVR2B in Fetal anomalies


Version 2.105

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Disease associations
  • Heterotaxy, visceral, 4, autosomal 613751

Red ACVR2B in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.13

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Disease associations
  • Left-right axis malformation