PRKACA protein kinase cAMP-activated catalytic subunit alpha

Gene info

Synonyms

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

Previous symbol

None

External ID

HGNC: 9380
Entrez Gene: 5566
Ensembl: ENSG00000072062
UCSC: uc002myc.4
OMIM: 601639
UniProtKB: P17612

Disease info

Disease

None

CHD Phenotype

  • Atrioventricular septal defect

Extra Cardiac Phenotype

Postaxial polydactyly

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

97592

Variant info

Clinvar

PRKACA

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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Selected References

  1. 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