POLR1A RNA polymerase I subunit A

Gene info

Synonyms

DKFZP586M0122, FLJ21915, RPO1-4, RPA1

Previous symbol

None

External ID

HGNC: 17264
Entrez Gene: 25885
Ensembl: ENSG00000068654
UCSC: uc002sqs.4
OMIM: 616404
UniProtKB: O95602

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent foramen ovale
  • Anomalous origin of right coronary artery
  • Pulmonary artery stenosis

Extra Cardiac Phenotype

Neurodevelopmental abnormalities, craniofacial anomalies, limb defects

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Mice homozygous for a knock-out allele exhibit failure of blastocyst formation, increased cell death, and complete embryonic lethality before implantation

MGI ID

1096397

Variant info

Clinvar

POLR1A

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

No variant passing our criteria was found for POLR1A.

Selected References

  1. Smallwood, K., Watt, K. E. N., Ide, S., Baltrunaite, K., Brunswick, C., Inskeep, K., Capannari, C., Adam, M. P., Begtrup, A., Bertola, D. R., Demmer, L., Demo, E., Devinsky, O., Gallagher, E. R., Guillen Sacoto, M. J., Jech, R., Keren, B., Kussmann, J., Ladda, R., … Weaver, K. N. (2023). POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. The American Journal of Human Genetics, 110(5), 809–825. https://doi.org/10.1016/j.ajhg.2023.03.014 DOI:10.1016/j.ajhg.2023.03.014 PMID:37075751