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  3. CDK4
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Fetal anomalies

Gene: CDK4

Amber List (moderate evidence)
CDK4 (cyclin dependent kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000135446
EnsemblGeneIds (GRCh37): ENSG00000135446
OMIM: 123829, Gene2Phenotype
CDK4 is in 8 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

Tessa Homfray (Consultant HNS)

I don't know

AD melanoma Gene. AR Loss of function. Biallelic mutations cause microcephaly so far postnatal only. Gene function compatible with this presentation. ID described as mild to moderate. Review in the near future
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
microcephaly 31, primary, autosomal recessive, MONDO:0980991; Short stature, HP:0004322; Microcephaly 31, primary, autosomal recessive, OMIM:621507

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
  • microcephaly 31, primary, autosomal recessive, MONDO:0980991
  • Short stature, HP:0004322
  • Microcephaly 31, primary, autosomal recessive, OMIM:621507
OMIM
123829
Clinvar variants
Variants in CDK4
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: CDK4 was added gene: CDK4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CDK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK4 were set to 40210435 Phenotypes for gene: CDK4 were set to microcephaly 31, primary, autosomal recessive, MONDO:0980991; Short stature, HP:0004322; Microcephaly 31, primary, autosomal recessive, OMIM:621507