1. Genes and Genomic Entities
  2. ACVR2B

ACVR2B

activin A receptor type 2B
OMIM: 602730, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red ACVR2B in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.24

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Ciliopathies
Green ACVR2B in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.90

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Heterotaxy syndrome
  • Heterotaxy, visceral, 4, autosomal, 613751
  • Visceral Heterotaxy
  • Heterotaxy, Visceral, 4, Autosomal
Red ACVR2B in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.56

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Red ACVR2B in Laterality disorders and isomerism


Level 2: Respiratory
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751
Red ACVR2B in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.33
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Unknown
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Heterotaxy, visceral, 4, autosomal 613751
    Green ACVR2B in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Expert Review
    Phenotypes
    • Heterotaxy
    • Dextrocardia
    • Double outlet right ventricle
    • Transposition of the great arteries
    • Gut malrotation
    • polysplenia
    • right-sided spleen
    • asplenia
    Red ACVR2B in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • HETEROTAXY SYNDROME 207574
    Green ACVR2B in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.31
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751
    Red ACVR2B in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • ciliopathies