Genomics England
GMS Panels
Panels
Genes and Entities

CNKSR2

connector enhancer of kinase suppressor of Ras 2
OMIM: 300724
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
INTELLECTUAL DISABILITY WITH EPILEPSY
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 4.134
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Intellectual developmental disorder, X-linked, syndromic, Houge type, OMIM:301008, intellectual disability, X-linked, syndromic, Houge type, MONDO:0030909
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual developmental disorder, X-linked, syndromic, Houge type, OMIM:301008, intellectual disability, X-linked, syndromic, Houge type, MONDO:0030909