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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
INTELLECTUAL DISABILITY 616579, Neurodevelopmental disorder and Epilepsy 618512
R-numbers: R59
Signed-off version 2.2
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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