Fetal anomalies
Gene: CDK13

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

3 reviews

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: Imported from Microcephaly panel version 0.273

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360

Publications

Created: 28 Feb 2020, 5:54 a.m.
Last Modified: 28 Feb 2020, 5:54 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2244

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

- Both dominant negative and haploinsufficiency have been suggested, but neither mechanism has been substantiated with functional studies (PMID: 29393965, PMID: 30904094).

- All reported pathogenic missense variants are located in the protein kinase domain (PMID: 29021403, PMID: 29393965).

- Two individuals with nonsense variants located at the C-terminal end of the kinase domain were clinically indistinguishable from those with missense variants, suggesting both haploinsufficiency and dominant-negative effect (PMID: 29393965).
Created: 27 Feb 2020, 11:01 p.m. | Last Modified: 27 Feb 2020, 11:01 p.m.

Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360

Publications

Created: 27 Feb 2020, 11:01 p.m.
Last Modified: 27 Feb 2020, 11:01 p.m.
Panel version: Imported from Congenital Heart Defect panel version 0.22

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360

OMIM

603309

Clinvar variants

Variants in CDK13

Penetrance

None

Publications

Panels with this gene