CEBPE - Gene browser | 3billion

CEBPE

CEBPE

CCAAT enhancer binding protein epsilon

HCNC Approved Symbol: CEBPE (HGNC:1836)
Genomic Coordinates: 14:23,117,306 - 23,119,255 (14q11.2)
Synonyms: CRP1
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 CEBPE 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

Congenital neutropenia: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Abnormal granulocytopoietic cell morphology: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Abnormality of granulocytes: 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

CEBPE - Gene browser | 3billion