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Genetic epilepsy syndromes

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

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

XLD EIEE2. Many reported cases on OMIM: Weaving et al, 2004 - 2 aff twin girls and twin brother had a delT variant. Aff girls of a second family had a different variant. Tao et al, 2004 - 2 unrelated girls - 2 different mutations in CDKL5. Elia et al, 2008 - 3/8 unrelated Italian boys had 3 diff mutations. In2 of the boys it wasn't present in the mothers, no DNA for third mum. Nemos et al, 2009 - screened 177 early onset seizure patients. 11 girls had de novo mutation including a large deletion found by MLPA. All of the mutations were associated with random X inactivation and cell lines that exclusively expressed mutant missense mutants found they are properly localised to the nucleus.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

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
Epileptic encephalopathy, early infantile, 2,300672

Publications

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
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Expert Review Green
Phenotypes
  • Angelman syndrome-like
  • Epileptic encephalopathy, early infantile, 2
OMIM
300203
Clinvar variants
Variants in CDKL5
Penetrance
None
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

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CDKL5.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CDKL5.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to CDKL5. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to CDKL5. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

CDKL5 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,Radboud University Medical Center, Nijmegen,UKGTN

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

CDKL5 was created by Sarah Leigh