TSEN54 - Gene browser

TSEN54

tRNA splicing endonuclease subunit 54

HCNC Approved Symbol: TSEN54 (HGNC:27561)
Genomic Coordinates: 17:75,516,528 - 75,524,735 (17q25.1)
Synonyms: SEN54, SEN54L
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

6Patients

In total, 6 patients were diagnosed with a variant in the TSEN54 gene.

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

06
Patient count

Global developmental delay: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Brain atrophy: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Dandy-walker malformation: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Spontaneous abortion: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Hypertonicity: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)