Angelman Rett like syndromes
Gene: CDKL5

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)

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, 8:47 a.m. | Last Modified: 20 Apr 2020, 8:47 a.m.

Panel Version: 0.5

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

Publications

Created: 20 Apr 2020, 8:47 a.m.
Last Modified: 20 Apr 2020, 8:47 a.m.
Panel version: 0.5

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
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