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  3. CDK13
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Craniosynostosis

Gene: CDK13

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

1 review

Yetong Chen (University of Melbourne)

Green List (high evidence)

A total of 4 unrelated individuals are reported.
PMID 34429528 reports a patient with a monoallelic CDK13 variant (c.2563G>C, p.Asp855His) who had metopic synostosis.
PMID 28807008 mentions 2 patients with craniosynostosis were identified from 9 individuals with CDK13 variants. However, detailed information about the 2 patients is not provided.
PMID 33288889 reports a patient with a CDK13 variant (c.2524 A > G, p.Asn842Asp) who presented with craniosynostosis.
Sources: Expert Review
Created: 16 May 2023, 3:28 a.m. | Last Modified: 16 May 2023, 3:29 a.m.
Panel Version: 1.56

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 16 May 2023, 3:28 a.m.
Last Modified: 16 May 2023, 3:29 a.m.
Panel version: 1.56

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
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

History Filter Activity

16 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdk13 has been classified as Green List (High Evidence).

16 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdk13 has been classified as Green List (High Evidence).

16 May 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Yetong Chen (University of Melbourne)

gene: CDK13 was added gene: CDK13 was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDK13 were set to 34429528; 28807008; 33288889 Phenotypes for gene: CDK13 were set to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360 Review for gene: CDK13 was set to GREEN