Genomics England
GMS Panels
Panels
Genes and Entities

KMT2E

lysine methyltransferase 2E
OMIM: 608444
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
INTELLECTUAL DISABILITY, Neurodevelopmental disorder and Epilepsy 618512
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
O'Donnell-Luria-Rodan syndrome, 618512, Global developmental delay, Intellectual disability, Autism, Seizures, Abnormality of skull size
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
O'Donnell-Luria-Rodan syndrome, 618512, Global developmental delay, Intellectual disability, Autism, Seizures, Abnormality of skull size