Features include always present findings: Narrow forehead, Sloping forehead, Intellectual disability, and Microcephaly and others; and very common findings: Stage 5 chronic kidney disease and Smooth philtrum. 35 total HPO annotations.

NUP107 encodes nucleoporin 107 (925 aa). Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. Required for the assembly of peripheral proteins into the NPC. May anchor NUP62 to the NPC. Involved in nephrogenesis Highest expression in Cells EBV-transformed lymphocytes (28.5 TPM) and Testis (21.7 TPM).

Galloway-Mowat syndrome 7 is associated with mutations in the NUP107 gene on chromosome 12.

NUP107 is classified as a druggable target (Transporter category) with score 0.0.

Genetic testing for NUP107 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features, 2 very common features, 5 common features.

No clinical trials have been registered for Galloway-Mowat syndrome 7.

1 publication has been identified in PubMed for Galloway-Mowat syndrome 7. Research spans Review / Meta-Analysis (100%).

Recent Publications

• Huang L (2025). [PMID: 40533795](https://pubmed.ncbi.nlm.nih.gov/40533795/). *Cell Commun Signal*. [Review / Meta-Analysis]