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Intellectual disability syndromic and non-syndromic

Gene: CDKL5

Green List (high evidence)

CDKL5 (cyclin dependent kinase like 5)
EnsemblGeneIds (GRCh38): ENSG00000008086
EnsemblGeneIds (GRCh37): ENSG00000008086
OMIM: 300203, Gene2Phenotype
CDKL5 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Developmental and epileptic encephalopathy-2 (DEE2) is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in impaired intellectual development and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. Phenotypic overlap with Rett syndrome.

Well established gene-disease association.
Created: 11 Nov 2021, 10:58 p.m. | Last Modified: 11 Nov 2021, 10:58 p.m.
Panel Version: 0.4263

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
Developmental and epileptic encephalopathy 2, MIM# 300672

Publications

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
  • Genetic Health Queensland
Phenotypes
  • Developmental and epileptic encephalopathy 2, MIM# 300672
OMIM
300203
Clinvar variants
Variants in CDKL5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdkl5 has been classified as Green List (High Evidence).

11 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDKL5 were changed from to Developmental and epileptic encephalopathy 2, MIM# 300672

11 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDKL5 were set to

11 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDKL5 was added gene: CDKL5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDKL5 was set to Unknown