PUF60 - Gene browser

PUF60

poly(U) binding splicing factor 60

HCNC Approved Symbol: PUF60 (HGNC:17042)
Genomic Coordinates: 8:143,816,344 - 143,829,315 (8q24.3)
Synonyms: FIR, SIAHBP1, RoBPI
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

13Patients

In total, 13 patients were diagnosed with a variant in the PUF60 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

013
Patient count

Global developmental delay: 5 (38.5%)
Patient Count: 5 (38.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (38.5%)
Short stature: 5 (38.5%)
Patient Count: 5 (38.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (38.5%)
Developmental delay: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Patent ductus arteriosus: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Dysmorphism: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)