Epileptic encephalopathy
Gene: CDKL5EnsemblGeneIds (GRCh38): ENSG00000008086
EnsemblGeneIds (GRCh37): ENSG00000008086
OMIM: 300203, Gene2Phenotype
CDKL5 is in 5 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
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
- Kishino et al (1995) Nature Genet 15: 70-73
- Tao et al (2004) Am J Hum Genet 75: 1149-1154
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
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
- Kishino et al (1995) Nature Genet 15: 70-73
- Tao et al (2004) Am J Hum Genet 75: 1149-1154
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
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
- Kishino et al (1995) Nature Genet 15: 70-73
- Tao et al (2004) Am J Hum Genet 75: 1149-1154
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
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
- Kishino et al (1995) Nature Genet 15: 70-73
- Tao et al (2004) Am J Hum Genet 75: 1149-1154
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Allelic requirement in gene2phenotype is x-linked dominant (monoallelic in females).Created: 17 Dec 2015, 2:53 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Angelman syndrome-like
- Epileptic encephalopathy, early infantile, 2
- OMIM
- 300203
- Clinvar variants
- Variants in CDKL5
- Penetrance
- Complete
- Publications
-
- Kishino et al (1995) Nature Genet 15: 70-73
- Tao et al (2004) Am J Hum Genet 75: 1149-1154
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CDKL5 were set to Angelman syndrome-like; Epileptic encephalopathy, early infantile, 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)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)
Set publications
Ellen McDonagh (Genomics England Curator)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
gel status update
GEL ()The Gel status was updated for this whole panel
gel status update
GEL ()The Gel status was updated for this whole panel
Upload gene information
Ellen McDonagh (Genomics England Curator)CDKL5 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)CDKL5 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)CDKL5 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)CDKL5 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert