TGFB1

TGFB1

transforming growth factor beta 1

HCNC Approved Symbol: TGFB1 (HGNC:11766)
Genomic Coordinates: 19:41,330,323 - 41,353,922 (19q13.2)
Synonyms: CED, TGFbeta, TGFB, DPD1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the TGFB1 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Failure to thrive: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Polyostotic fibrous dysplasia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Skeletal myopathy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30