TWIST1 has been associated with isolated Craniosynostosis. At least 8 probands with Craniosynostosis but without additional syndromic features have been described in the literature. This gene-disease relationship is supported by genetic and experimental evidence, including mouse models. Notably, TWIST1 has also been curated for Saethre-Chotzen syndrome and Sweeney Cox syndrome by the ClinGen Craniofacial malformations GCEP and came to definitive and limited classifications, respectively. In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged. This curation was approved by the ClinGen Craniofacial malformations GCEP on 6/3/21 (SOP 8).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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