TGFBR1 - Gene browser

TGFBR1

transforming growth factor beta receptor 1

HCNC Approved Symbol: TGFBR1 (HGNC:11772)
Genomic Coordinates: 9:99,103,647 - 99,154,192 (9q22.33)
Synonyms: ALK-5, ACVRLK4, ALK5, TBRI, TBR-i, MSSE, ESS1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

7Patients

In total, 7 patients were diagnosed with a variant in the TGFBR1 gene.

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

07
Patient count

Long fingers: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
High arched palate: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Abnormality of the pinna: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Bilateral camptodactyly: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Cognitive impairment: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)