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Mendeliome

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

2 reviews

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Many PTC reported as P/LP in ClinVar.
Created: 20 Apr 2020, 6:03 a.m. | Last Modified: 20 Apr 2020, 6:03 a.m.
Panel Version: 0.2440

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, MIM 300672

Variants in this GENE are reported as part of current diagnostic practice

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 27080038; >100 patients with EE and/or CDKL5 disorder
PMID: 30842224; non-MECP2 probands with Rett-like syndromes categorised into 1) typical RTT, 2) atypical RTT, 3) RTT-like phenotype. Total of 1 family with SNV in CDKL5.
Created: 20 Apr 2020, 4:29 a.m. | Last Modified: 20 Apr 2020, 4:29 a.m.
Panel Version: 0.2377

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
Rett syndrome; Rett-like phenotypes; Epileptic encephalopathy

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 2, MIM 300672
OMIM
300203
Clinvar variants
Variants in CDKL5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2020, 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).

20 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDKL5 were changed from to Epileptic encephalopathy, early infantile, 2, MIM 300672

20 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDKL5 were set to

20 Apr 2020, 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, biallelic mutations in females

17 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CDKL5 was set to Unknown