Microcephaly
Gene: CDKL5

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

1 review

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: 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 Amber
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