ERF - Gene browser

ERF

ETS2 repressor factor

HCNC Approved Symbol: ERF (HGNC:3444)
Genomic Coordinates: 19:42,247,569 - 42,255,128 (19q13.2)
Synonyms: PE-2, PE2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the ERF gene.

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

08
Patient count

Global developmental delay: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Proptosis: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Autistic behavior: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)
Epileptic encephalopathy: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)
Epileptic spasms: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)