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TWIST1

twist family bHLH transcription factor 1
5 disorders 2 untyped 1 no genetic record 1 susceptibility 1 causative 7p21.1 gene with protein product
HGNC:12428MonarchNCBI Gene 7291ENSG00000122691UniProt Q15672OMIM 601622

Previous symbols: ACS3, BPES3, TWIST, CRS. Aliases: SCS, H-twist, BPES2, bHLHa38, CRS1.

In the knowledge base · computed from kb/ at build time

Disorders

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.

DisorderRelationshipWhere the gene appears
Aortic Valve Stenosis susceptibility
Auriculocondylar Syndrome causative
mechanism: HDAC9-TWIST1 Regulatory Duplication; Increased Neural Crest TWIST1 Expression
subtype: ARCND4
scoped to subtype: ARCND4
Saethre-Chotzen Syndrome untyped
Causative
mechanism: TWIST1 haploinsufficiency and loss of suture osteogenic restraint
Sweeney-Cox Syndrome untyped
CAUSATIVE
de novo dominant negative
mechanism: TWIST1 Glu117 Basic-Domain Substitution
Androgenetic Alopecia no genetic record
mechanism: Polygenic Susceptibility
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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 diseaseMOIClassificationdismech entry
Saethre-Chotzen syndrome MONDO:0007042 AD Definitive
2021-01-28
TWIST1-related craniosynostosis MONDO:0007399 AD Moderate
2021-06-10
 no dismech entry
Sweeney-Cox syndrome MONDO:0060592 AD Limited
2021-03-26
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.