TWIST1 - Gene browser

TWIST1

twist family bHLH transcription factor 1

HCNC Approved Symbol: TWIST1 (HGNC:12428)
Genomic Coordinates: 7:19,113,047 - 19,117,636 (7p21.1)
Synonyms: SCS, H-twist, BPES2, bHLHa38, CRS1, ACS3, BPES3, TWIST, CRS
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

12Patients

In total, 12 patients were diagnosed with a variant in the TWIST1 gene.

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

012
Patient count

Hypertelorism: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Craniosynostosis: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Ptosis: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Craniosyostosis: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Absence of canine: 1 (8.3%)
Patient Count: 1 (8.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (8.3%)