KMT2D

1 article(s) in the watch · Constitutional genetics

KMT2D encodes a histone methyltransferase regulating gene expression. Loss-of-function variants cause Kabuki syndrome.

InheritanceDominant, usually de novo

Clinical spectrumCharacteristic facial features, intellectual disability, cardiac anomalies, immune deficiency

ManagementMultidisciplinary follow-up (cardiac, immune, developmental).

Curated publications

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

Kabuki syndrome type 1