PRKACB protein kinase cAMP-activated catalytic subunit beta

Gene info

Synonyms

cAMP-dependent protein kinase catalytic subunit beta|PKA C-beta

Previous symbol

None

External ID

HGNC: 9381
Entrez Gene: 5567
Ensembl: ENSG00000142875
UCSC: uc001djl.4
OMIM: 176892
UniProtKB: P22694

Disease info

Disease

None

CHD Phenotype

  • Atrioventricular septal defect

Extra Cardiac Phenotype

Limb anomalies (including short limbs, brachydactyly, and postaxial polydactyly), Dysmorphic facial features, Developmental delay

Incomplete penetrance

Yes

Variable expressivity

Yes

Animal model

Mouse study

MGI: No cardiovascular defect recorded in knockout mice

MGI ID

97594

Variant info

Clinvar

PRKACB

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

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Selected References

  1. Chhin, B., Hatayama, M., Bozon, D., Ogawa, M., Schön, P., Tohmonda, T., Sassolas, F., Aruga, J., Valard, A.-G., Chen, S.-C., & Bouvagnet, P. (2007). Elucidation of penetrance variability of aZIC3mutation in a family with complex heart defects and functional analysis ofZIC3mutations in the first zinc finger domain. Human Mutation, 28(6), 563–570. https://doi.org/10.1002/humu.20480 DOI:10.1002/humu.20480 PMID:17295247
  2. Palencia-Campos, A., Aoto, P. C., Machal, E. M. F., Rivera-Barahona, A., Soto-Bielicka, P., Bertinetti, D., Baker, B., Vu, L., Piceci-Sparascio, F., Torrente, I., Boudin, E., Peeters, S., Van Hul, W., Huber, C., Bonneau, D., Hildebrand, M. S., Coleman, M., Bahlo, M., Bennett, M. F., … Ruiz-Perez, V. L. (2020). Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome. The American Journal of Human Genetics, 107(5), 977–988. https://doi.org/10.1016/j.ajhg.2020.09.005 DOI:10.1016/j.ajhg.2020.09.005 PMID:33058759