TBCE - Gene browser

TBCE

tubulin folding cofactor E

HCNC Approved Symbol: TBCE (HGNC:11582)
Genomic Coordinates: 1:235,367,427 - 235,452,443 (1q42.3)
Synonyms: KCS1, pac2, KCS, HRD
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

9Patients

In total, 9 patients were diagnosed with a variant in the TBCE gene.

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

09
Patient count

Hypoparathyroidism: 4 (44.4%)
Patient Count: 4 (44.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (44.4%)
Atrial septal defect: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Cataract, congenital, anterior polar: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Cerebellar atrophy: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Corpus callosum abnormality: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)