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Epileptic encephalopathy

Gene: CDKL5

Green List (high evidence)

CDKL5 (cyclin dependent kinase like 5)
EnsemblGeneIds (GRCh38): ENSG00000008086
EnsemblGeneIds (GRCh37): ENSG00000008086
OMIM: 300203, Gene2Phenotype
CDKL5 is in 4 panels

5 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CDKL5 were set to Angelman syndrome-like; Epileptic encephalopathy, early infantile, 2

17 Dec 2015, Gel status: 4

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)

17 Dec 2015, Gel status: 4

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

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

CDKL5 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CDKL5 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CDKL5 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CDKL5 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert