Genomics England
GMS Panels
Panels
Genes and Entities

KDM5B

lysine demethylase 5B
OMIM: 605393
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
KDM5B-related neurodevelopmental disorder (biallelic), Intellectual developmental disorder, autosomal recessive 65, OMIM:618109, intellectual disability, autosomal recessive, MONDO:0020850, KDM5B-related neurodevelopmental disorder (monoallelic), neurodevelopmental disorder, MONDO:0700092
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder, autosomal recessive 65, OMIM:618109