Genomics England
GMS Panels
Panels
Genes and Entities

KDM5B

lysine demethylase 5B
OMIM: 605393
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
neurodevelopment delay and autism spectrum disorder, Mental retardation, autosomal recessive 65, 618109