[Error loading the WebPart 'GTL_RCPAGeneticsLogin' of type 'RCPALogin']

Details of Gene

Item Details
Gene/Locus name

TWIST1 (also called SCS,H-twist,BPES2,bHLHa38,CRS1)

Long Name

twist family bHLH transcription factor 1 (OMIM 601622)

Associated Disorders

OMIM 617746 : Sweeney-Cox syndrome
OMIM 180750 : Robinow-Sorauf syndrome
OMIM 123100 : Craniosynostosis 1
OMIM 101400 : Saethre-Chotzen syndrome with or without eyelid anomalies

Interpretation / Comment

Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.

HGNC Last Edit Date