1. Panels
  2. Fetal anomalies
  3. CDK9
Genes in panel
Prev Next

Fetal anomalies

Gene: CDK9

Amber List (moderate evidence)
CDK9 (cyclin dependent kinase 9)
EnsemblGeneIds (GRCh38): ENSG00000136807
EnsemblGeneIds (GRCh37): ENSG00000136807
OMIM: 603251, Gene2Phenotype
CDK9 is in 3 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Vicki Harrison (Wessex Clinical Genetics Service)

Green List (high evidence)

In cataracts and ID gene panels. Pair of cousins and then multiple unrelated individuals from consanguineous families carrying same homozygous p.Arg225Cys - CHARGE like phenotype but limited info for some. Not documented in papers as clearly pathogenic. Functional data for patient in Nishina et al., 2021 with different variants. More recent patient with eye only phenotype.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CHARGE-like syndrome with retinal dystrophy

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • CHARGE-like syndrome with retinal dystrophy
OMIM
603251
Clinvar variants
Variants in CDK9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: CDK9 was added gene: CDK9 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CDK9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK9 were set to 26633546; 40954203; 33640901; 30237576 Phenotypes for gene: CDK9 were set to CHARGE-like syndrome with retinal dystrophy