Fetal anomalies
Gene: CDKL5

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

2 reviews

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.

Progressive microcephaly is a feature.

Well established gene-disease association.
Created: 11 Nov 2021, 10:57 p.m. | Last Modified: 11 Nov 2021, 10:57 p.m.

Panel Version: 0.406

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

19793311

Created: 11 Nov 2021, 10:57 p.m.
Last Modified: 11 Nov 2021, 10:57 p.m.
Panel version: 0.406

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

Progressive microcephaly described in OMIM

PMID: 15689447;
- 2 females both with fs variants
- patient A: born with 50th centile head circumference but was <3rd centile at 1year
- patient B: 10th centile

PMID: 19396824;
- 1x female with head circumference of -0.63SD and de novo missense

PMID: 22678952;
- 12 females with 3 described to have 'absolute microcephaly' (<3rd centile)

PMID: 31122804;
- 2 males and 2 females, all PTVs
- only 1 male with microcephaly (no measurements provided)
- table 2 shows a total of 122 reported patients with 65 presenting with 'acquired microcephaly' However, PMID: 30928302 states less than 10% present with microcephaly and deceleration of head growth
Created: 2 Sep 2020, 2:48 a.m. | Last Modified: 2 Sep 2020, 2:48 a.m.

Panel Version: 0.273

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: 2 Sep 2020, 2:48 a.m.
Last Modified: 2 Sep 2020, 2:48 a.m.
Panel version: Imported from Microcephaly panel version 0.273

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
Genomics England PanelApp

Phenotypes

Developmental and epileptic encephalopathy 2, MIM# 300672

OMIM

300203

Clinvar variants

Variants in CDKL5

Penetrance

None

Publications

19793311

Panels with this gene