ACVR1 activin A receptor type 1

Gene info

Synonyms

SKR1, ALK2, ACVR1A

Previous symbol

ACVRLK2

External ID

HGNC: 171
Entrez Gene: 90
Ensembl: ENSG00000115170
UCSC: uc010fog.3
OMIM: 102576
UniProtKB: Q04771

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Transposition of the great arteries
  • Double outlet right ventricle
  • Atrioventricular septal defect

Extra Cardiac Phenotype

None

Incomplete penetrance

Yes

Variable expressivity

Unknown

Animal model

Mouse study

Mouse with neural crest-specific conditional deletion has CHD, mutated RNA injected into zebrafish leads to CHD

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for ACVR1: BED file

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Selected References

  1. Smith, K. A., Joziasse, I. C., Chocron, S., van Dinther, M., Guryev, V., Verhoeven, M. C., … Bakkers, J. (2009). Dominant-Negative ALK2 Allele Associates With Congenital Heart Defects . Circulation, 119(24), 3062–3069. DOI:10.1161/CIRCULATIONAHA.108.843714 PMID:19506109
  2. Joziasse, I. C., Smith, K. A., Chocron, S., van Dinther, M., Guryev, V., van de Smagt, J. J., … Bakkers, J. (2011). ALK2 mutation in a patient with Down’s syndrome and a congenital heart defect. European Journal of Human Genetics, 19(4), 389–393. DOI:10.1038/ejhg.2010.224 PMID:21248739