PAN2 poly(A) specific ribonuclease subunit PAN2

Gene info

Synonyms

KIAA0710, hPAN2

Previous symbol

USP52

External ID

HGNC: 20074
Entrez Gene: 9924
Ensembl: ENSG00000135473
UCSC: uc001sky.4
OMIM: 617447
UniProtKB: Q504Q3

Disease info

Disease

None

CHD Phenotype

  • Tetralogy of fallot
  • Atrial septal defect
  • Ventricular septal defect
  • Dilated aortic root

Extra Cardiac Phenotype

Intellectual disability, hypotonia, sensorineural hearing loss, EEG abnormalities, urinary tract malformations, ophthalmological anomalies, short stature, skeletal anomalies, craniofacial anomalies, severe early-onset scoliosis, imperforate anus

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Mice homozygous for an ENU-induced allele exhibit embryonic lethality

MGI ID

1918984

Variant info

Clinvar

PAN2

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 PAN2.

Selected References

  1. Reuter, M. S., Zech, M., Hempel, M., Altmüller, J., Heung, T., Pölsler, L., Santer, R., Thiele, H., Trost, B., Kubisch, C., Scherer, S. W., Rudnik-Schöneborn, S., Bassett, A. S., & Lessel, D. (2022). Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies. European Journal of Human Genetics, 30(5), 611–618. https://doi.org/10.1038/s41431-022-01077-y DOI:10.1038/s41431-022-01077-y PMID:35304602
  2. Maddirevula, S., Alsahli, S., Alhabeeb, L., Patel, N., Alzahrani, F., Shamseldin, H. E., Anazi, S., Ewida, N., Alsaif, H. S., Mohamed, J. Y., Alazami, A. M., Ibrahim, N., Abdulwahab, F., Hashem, M., Abouelhoda, M., Monies, D., Al Tassan, N., Alshammari, M., Alsagheir, A., … Alkuraya, F. S. (2018). Expanding the phenome and variome of skeletal dysplasia. Genetics in Medicine, 20(12), 1609–1616. https://doi.org/10.1038/gim.2018.50 DOI:10.1038/gim.2018.50 PMID:29620724