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DDG2P

Gene: CCNK

Red List (low evidence)
CCNK (cyclin K)
EnsemblGeneIds (GRCh38): ENSG00000090061
EnsemblGeneIds (GRCh37): ENSG00000090061
OMIM: 603544, Gene2Phenotype
CCNK is in 2 panels

4 reviews

Ida Ertmanska (Genomics England Curator)

This panel represents gene-disease associations from the Developmental Disorders (DD) panel in the Gene2Phenotype (G2P) database (DDG2P). Thus, external reviews added to this panel will not be reviewed and curated as it represents the knowledge from an external resource.
CCNK has now been curated separately and suggested for promotion to Green on the Intellectual disability panel.
Created: 24 Nov 2025, 12:17 p.m. | Last Modified: 24 Nov 2025, 12:17 p.m.
Panel Version: 6.8
Created: 24 Nov 2025, 12:17 p.m.
Last Modified: 24 Nov 2025, 12:17 p.m.
Panel version: 6.8

Jana Jezkova (All Wales Medical Genomics Service)

I don't know

PMID: 35063350 - Number of patients with CCNK variants: 1 individual (not part of the main cohort)
Type of variants: de novo missense variant in CCNK, this individual was included in the methylation study and exhibited similar episignature to individuals with CDK13-related disorder

PMID: 37597256 - Number of patients: 5 patients (2 new patients with CCNK missense variants and 3 previously reported patients)
Type of variants: De novo heterozygous CCNK variants (missense variants in 2 patients, 14q32.2 deletions including CCNK in 3 patients)
Functional studies: Generated patient-derived induced pluripotent stem cells (iPSCs) and neural progenitor cells (NPCs).
Created NPC-specific Ccnk knockout mice.
Performed RNA sequencing analyses.
Conducted rescue experiments using a Wnt5a inhibitor.

Clinical features: Global developmental delay/intellectual disability (ranging from severe to extremely severe)
Profound language defects
Facial dysmorphisms
No statistically significant differences in phenotypes between missense variant and deletion patients, though deletion patients showed slightly worse phenotypes in some areas
Created: 3 Sep 2024, 2:58 p.m. | Last Modified: 3 Sep 2024, 2:58 p.m.
Panel Version: 4.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
developmental delay; intellectual disability; facial dysmorphism

Publications

Created: 3 Sep 2024, 2:58 p.m.
Last Modified: 3 Sep 2024, 2:58 p.m.
Panel version: 4.8

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:30122539).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P in March 2019: Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism. DDG2P Disease confidence: possible. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic.
Created: 22 Apr 2019, 7:34 p.m.
Created: 22 Apr 2019, 7:34 p.m.

Panel version: 1.38

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
OMIM
603544
Clinvar variants
Variants in CCNK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Apr 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: CCNK was added gene: CCNK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CCNK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCNK were set to 30122539 Phenotypes for gene: CCNK were set to Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism