POLR1A RNA polymerase I subunit A

Gene info

Synonyms

None

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

1

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

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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