Genomics England
GMS Panels
Panels
Genes and Entities

DOT1L

DOT1 like histone lysine methyltransferase
OMIM: 607375
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
DOT1L-related neurodevelopmental disorder with intracranial anomalies