Previous symbols: VCF. Aliases: CATCH22.
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 |
|---|---|---|
| Congenital Heart Disease | causative |
mechanism: Cardiac Neural Crest Migration and Outflow Tract Septation Failure
scoped to subtype: CTD
|
| Double Outlet Right Ventricle | causative | |
| Persistent Truncus Arteriosus | causative germline | |
| Tetralogy of Fallot | causative germline | |
| 22q11.2 Deletion Syndrome |
untyped
Major contributor to pharyngeal-apparatus and cardiovascular developmental phenotypes; not sufficient to explain the full deletion syndrome.
germline
|
mechanism: Recurrent LCR22-mediated multigene deletion; TBX1-associated pharyngeal developmental vulnerability
subtype: DiGeorge; Velocardiofacial
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.