Genomics England
GMS Panels
Panels
Genes and Entities

KDM6B

lysine demethylase 6B
OMIM: 611577
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION, KDM6B-related developmental disorder (monoallelic)
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, OMIM:618505, neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, MONDO:0032790
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, OMIM:618505, neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, MONDO:0032790