Malformations of cortical development

Gene: CDK13

Green List (high evidence)

CDK13 (cyclin dependent kinase 13)
EnsemblGeneIds (GRCh38): ENSG00000065883
EnsemblGeneIds (GRCh37): ENSG00000065883
OMIM: 603309, Gene2Phenotype
CDK13 is in 5 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Cannot find evidence for association with cortical malformations. Corpus callosum abnormalities reported.
Created: 24 Aug 2020, 8:52 a.m. | Last Modified: 24 Aug 2020, 8:52 a.m.
Panel Version: 2.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Added to this panel and promoted to green after clinical input; sufficient evidence to be made green.
Created: 7 Nov 2017, 10:46 a.m.

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

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Congenital heart defects, dysmorphic facial features, and intellectual development disorder 617360
OMIM
603309
Clinvar variants
Variants in CDK13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Nov 2017, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CDK13 was added to Malformations of cortical development panel. Sources: Expert Review

7 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CDK13 was created by Ellen McDonagh