rs1553565140

This variant is located in the TWIST2 gene.

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ClinVar annotation

Pathogenic★★★☆

4 submitters17 publications

Ablepharon macrostomia syndrome; Inborn genetic diseases

About TWIST2

The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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