TERT - Gene browser

TERT

telomerase reverse transcriptase

HCNC Approved Symbol: TERT (HGNC:11730)
Genomic Coordinates: 5:1,253,167 - 1,295,068 (5p15.33)
Synonyms: TRT, TP2, TCS1, hEST2, EST2
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

11Patients

In total, 11 patients were diagnosed with a variant in the TERT gene.

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

011
Patient count

Cirrhosis: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Developmental delay: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Facial hypertrichosis: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Hypertrichosis: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Hypoplastic cerebellar vermis: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)