Previous symbols: MFS2. Aliases: TBRII, TBR-ii.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Familial Thoracic Aortic Aneurysm and Aortic Dissection | causative germline |
mechanism: TGF-beta signaling dysregulation
|
| Kawasaki Disease |
untyped
TGF-β receptor involved in endothelial-to-mesenchymal transition
|
mechanism: Vascular Inflammation
|
| Marfan Syndrome |
untyped
Implicated
|
|
| Loeys-Dietz Syndrome | no genetic record |
mechanism: Paradoxical TGF-beta Signaling
subtype: Loeys-Dietz Syndrome Type 2
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| Loeys-Dietz syndrome 2 MONDO:0012427 | AD | Definitive 2020-11-25 |
Loeys-Dietz Syndrome
no genetic record
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.