NR2F1 - Gene browser

NR2F1

nuclear receptor subfamily 2 group F member 1

HCNC Approved Symbol: NR2F1 (HGNC:7975)
Genomic Coordinates: 5:93,583,222 - 93,594,611 (5q15)
Synonyms: EAR-3, COUP-TFI, TCFCOUP1, SVP44, COUPTF1, ERBAL3, TFCOUP1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

12Patients

In total, 12 patients were diagnosed with a variant in the NR2F1 gene.

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

012
Patient count

Mental retardation: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Global developmental delay: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Intellectual disability: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Generalized hypotonia: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Visual impairment: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)