KMT2E

Gene product: lysine N-methyltransferase-2E.

Protein function: Belongs to the KMT2 family, a group of enzymes that play a role in transcriptional regulation through chromatin remodeling.

Phenotype: O'Donnell-Luria-Rodan syndrome (Can present as neurodevelopmental impairment and seizures) (AD) [1].

Mutation database: ClinVar.

Clinical research: PubMed (PMID: 31079897 (Am J Hum Genet. 2019)).

References:

1. O'Donnell-Luria, A. H., et al. (2019). "Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy." Am J Hum Genet 104(6): 1210-1222.