NUP188 nucleoporin 188

Gene info

Synonyms

None

Previous symbol

KIAA0169

External ID

HGNC: 17859
Entrez Gene: 23511
Ensembl: ENSG00000095319
UCSC: uc004bws.3
OMIM: 615587
UniProtKB: Q5SRE5

Disease info

Disease

CHD Phenotype

  • Ventricular septal defect
  • Bicuspid aortic valve
  • Patent ductus arteriosus
  • Partial anomalous pulmonary venous return

Extra Cardiac Phenotype

Dysmorphic facies, Neurodevelopmental delay, brain hypoplasia, microcephaly, Congenital bilateral cateract, digit and limb deformity

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

2446190

Variant info

Clinvar

NUP188

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. Muir, A. M., Cohen, J. L., Sheppard, S. E., Guttipatti, P., Lo, T. Y., Weed, N., Doherty, D., DeMarzo, D., Fagerberg, C. R., Kjærsgaard, L., Larsen, M. J., Rump, P., Löhner, K., Hirsch, Y., Zeevi, D. A., Zackai, E. H., Bhoj, E., Song, Y., & Mefford, H. C. (2020). Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. The American Journal of Human Genetics, 106(5), 623–631. https://doi.org/10.1016/j.ajhg.2020.03.009 DOI:10.1016/j.ajhg.2020.03.009 PMID:32275884
  2. Sandestig, A., Engström, K., Pepler, A., Danielsson, I., Odelberg-Johnsson, P., Biskup, S., Holz, A., & Stefanova, M. (2019). NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome? Molecular Syndromology, 10(6), 313–319. Portico. https://doi.org/10.1159/000504818 DOI:10.1159/000504818 PMID:32021605