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

How is a KMT2D-related condition inherited?+

Dominant, usually de novo

What is the clinical spectrum associated with KMT2D?+

Characteristic facial features, intellectual disability, cardiac anomalies, immune deficiency

What is the management associated with KMT2D?+

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

How many Geno'X publications cover the KMT2D gene?+

1 publication(s) on KMT2D have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics).