Microcephaly
Gene: CDK13

CDK13 (cyclin dependent kinase 13)
EnsemblGeneIds (GRCh38): ENSG00000065883
EnsemblGeneIds (GRCh37): ENSG00000065883
OMIM: 603309, Gene2Phenotype
CDK13 is in 9 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

Mild microcephaly in some patients (OMIM)

PMID: 29021403;
- 15 patients, all de novo missense
- OFC ranges from 50th to <0.4th centile. Only 4 patients have <0.4 centiles and 2 with 1st centile
(includes patients reported in PMID: 27479907)

PMID: 31238879;
- 7 patients with likely path variants in CDK13 (ACMG was used in classifications)
- 2 with microcephaly but measurements not provided
Created: 2 Sep 2020, 1:33 a.m. | Last Modified: 2 Sep 2020, 2:12 a.m.

Panel Version: 0.273

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (MIM#617360)

Publications

Created: 2 Sep 2020, 1:33 a.m.
Last Modified: 2 Sep 2020, 2:12 a.m.
Panel version: 0.273

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (MIM#617360)

OMIM

603309

Clinvar variants

Variants in CDK13

Penetrance

None

Publications

Panels with this gene