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  3. ACVR2B
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Isomerism and laterality disorders

Gene: ACVR2B

Green List (high evidence)
ACVR2B (activin A receptor type 2B)
EnsemblGeneIds (GRCh38): ENSG00000114739
EnsemblGeneIds (GRCh37): ENSG00000114739
OMIM: 602730, Gene2Phenotype
ACVR2B is in 9 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Heterotaxy syndrome
  • Heterotaxy, visceral, 4, autosomal, 613751
OMIM
602730
Clinvar variants
Variants in ACVR2B
Penetrance
Complete
Publications
  • doi:10.1016/j.ejmg.2005.12.003
Panels with this gene

History Filter Activity

16 May 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ACVR2B were changed from Heterotaxy syndrome; Heterotaxy, visceral, 4, autosomal, 613751; Visceral Heterotaxy, Heterotaxy, Visceral, 4, Autosomal to Heterotaxy syndrome; Heterotaxy, visceral, 4, autosomal, 613751

16 May 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ACVR2B was added to Isomerism and laterality disorderspanel. Source: UKGTN

16 May 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ACVR2B was added to Isomerism and laterality disorderspanel. Source: Radboud University Medical Center, Nijmegen

16 May 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ACVR2B was added to Isomerism and laterality disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Literature

16 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ACVR2B was created by ellenmcdonagh