Genetic Epilepsy

Gene: KMT2E

Green List (high evidence)

Pathogenic missense reported, but mechanism has been speculated to be gain of function or dominant negative due to more severe phenotype

Familial cases reported (not only de novo)

Created: 14 Feb 2020, 3:21 a.m. | Last Modified: 14 Feb 2020, 3:21 a.m.

Panel Version: 0.1357

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
O'Donnell-Luria-Rodan syndrome

Publications

• PMID: 31079897

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. The four individuals with missense variants presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E postulated to explain this divergence in phenotype.

Created: 14 Apr 2020, 2:30 a.m. | Last Modified: 14 Apr 2020, 2:30 a.m.

Panel Version: 0.654

Thirty individuals reported with this neurodevelopmental syndrome, substantial proportion had seizures.
Sources: Expert list

Created: 24 Jan 2020, 1:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
O'Donnell-Luria-Rodan syndrome, MIM# 618512; Intellectual disability; Autism; Seizures

Publications

• 31079897

Variants in this GENE are reported as part of current diagnostic practice