Epileptic encephalopathy
Gene: CDKL5
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Angelman syndrome-like; Epileptic encephalopathy, early infantile, 2
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Angelman syndrome-like; Epileptic encephalopathy, early infantile, 2
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Angelman syndrome-like; Epileptic encephalopathy, early infantile, 2
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Angelman syndrome-like; Epileptic encephalopathy, early infantile, 2
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Allelic requirement in gene2phenotype is x-linked dominant (monoallelic in females).Created: 17 Dec 2015, 2:53 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for CDKL5 were set to Angelman syndrome-like; Epileptic encephalopathy, early infantile, 2
Mode of inheritance for CDKL5 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for CDKL5 were set to Kishino et al (1995) Nature Genet 15: 70-73; Tao et al (2004) Am J Hum Genet 75: 1149-1154
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
CDKL5 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
CDKL5 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
CDKL5 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
CDKL5 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert