Genomics England
GMS Panels
Panels
Genes and Entities

KDM5B

lysine demethylase 5B
OMIM: 605393
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder, autosomal recessive 65, OMIM:618109