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TWIST1 twist family bHLH transcription factor 1

Also known as: CRS; CSO; SCS; ACS3; CRS1; BPES2; BPES3; TWIST; bHLHa38

Summary

Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Craniosynostosis 1
MedGen: CN029978OMIM: 123100GeneReviews: Not available
See labs
Robinow Sorauf syndrome
MedGen: C1867146OMIM: 180750GeneReviews: Not available
See labs
Saethre-Chotzen syndrome
MedGen: C0175699OMIM: 101400GeneReviews: Saethre-Chotzen Syndrome
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

ClinGen Genome Curation Page

Genomic context

Location:
7p21.2
Sequence:
Chromosome: 7; NC_000007.14 (19113047..19117672, complement)
Total number of exons:
4

Links

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