Genomics England
GMS Panels
Panels
Genes and Entities

KDM5A

lysine demethylase 5A
OMIM: 180202
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
autism spectrum disorder, MONDO:0005258, intellectual disability, MONDO:0001071, El Hayek-Chahrour neurodevelopmental syndrome, OMIM:620820