1. Panels
  2. Rare syndromic craniosynostosis or isolated multisuture synostosis
  3. CDK8
Genes in panel
Prev Next
STRs in panel
Prev Next

Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: CDK8

Red List (low evidence)
CDK8 (cyclin dependent kinase 8)
EnsemblGeneIds (GRCh38): ENSG00000132964
EnsemblGeneIds (GRCh37): ENSG00000132964
OMIM: 603184, Gene2Phenotype
CDK8 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Metopic synostosis was described in one individual out of 12 reported with variants in CDK8 from PMID:30905399. This individual harboured a de novo c.88G>A (p.Gly30Ser) variant.
Sources: Literature
Created: 20 Jul 2023, 10:23 a.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 20 Jul 2023, 10:23 a.m.

Panel version: 4.112

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
OMIM
603184
Clinvar variants
Variants in CDK8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CDK8 was added gene: CDK8 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDK8 were set to 30905399; 36980886 Phenotypes for gene: CDK8 were set to craniosynostosis, MONDO:0015469 Review for gene: CDK8 was set to RED