NUP188 nucleoporin 188
- 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
MGI: no cardiovascular defect recorded, Xenopus with NUP188 depletion has abnormal cardiac looping
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
No variant passing our criteria was found for NUP188.
- Muir, A. M., Cohen, J. L., Sheppard, S. E., Guttipatti, P., Lo, T. Y., Weed, N., … 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. DOI:10.1016/j.ajhg.2020.03.009 PMID:32275884
- Sandestig, A., Engström, K., Pepler, A., Danielsson, I., Odelberg-Johnsson, P., Biskup, S., … Stefanova, M. (2019). NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome? Molecular Syndromology, 10(6), 313–319. DOI:10.1159/000504818 PMID:32021605