ETV6 - Gene browser | 3billion

ETV6

ETV6

ETS variant transcription factor 6

HCNC Approved Symbol: ETV6 (HGNC:3495)
Genomic Coordinates: 12:11,649,674 - 11,895,377 (12p13.2)
Synonyms: TEL
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the ETV6 gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Thrombocytopenia: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Abnormality of coagulation: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Delayed speech and language development: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Growth hormone deficiency: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)

Last updated: 2024-06-30

ETV6 - Gene browser | 3billion