TGFBR2 - Gene browser

TGFBR2

transforming growth factor beta receptor 2

HCNC Approved Symbol: TGFBR2 (HGNC:11773)
Genomic Coordinates: 3:30,606,356 - 30,694,142 (3p24.1)
Synonyms: TBRII, TBR-ii, MFS2
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

14Patients

In total, 14 patients were diagnosed with a variant in the TGFBR2 gene.

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

014
Patient count

Pectus excavatum: 4 (28.6%)
Patient Count: 4 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
4 (28.6%)
Aortic dilatation: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)
Developmental delay: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Aortic root dilatation: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Umbilical hernia: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)