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Fetal anomalies

Gene: CDK20

Amber List (moderate evidence)
CDK20 (cyclin dependent kinase 20)
EnsemblGeneIds (GRCh38): ENSG00000156345
EnsemblGeneIds (GRCh37): ENSG00000156345
OMIM: 610076, Gene2Phenotype
CDK20 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are five unrelated families reported with biallelic CDK20 variants and with a multisystem phenotype, which included five foetuses from three families (resulting in termination of pregnancies) and two live children. This gene can therefore promoted to green rating in the next GMS update.
Created: 23 Jul 2026, 12:06 p.m. | Last Modified: 23 Jul 2026, 12:06 p.m.
Panel Version: 7.32
PMID:42409022 (2026) reported a cohort of seven individuals from five unrelated families including five deceased foetuses and two living children presenting with a consistent pattern of multisystem anomalies.

Recurrent prenatal findings included severe ventriculomegaly or holoprosencephaly, midline cleft lip and palate, cryptophthalmos and/or anophthalmia, and limb anomalies, resulting in a decision to terminate the pregnancy. Postmortem examinations demonstrated a spectrum of brain malformations, including aqueduct stenosis, agenesis of the olfactory bulb and tract, absent pituitary stalk, corticospinal tract abnormalities, corpus callosum abnormalities, absent septum pellucidum, polydactyly and a sandal toe gap. The two living individuals showed overlapping features, including structural brain anomalies, panhypopituitarism, genital anomalies, and severe global developmental delay.

These families were identified with either homozygous or compound heterozygous variants in CDK20 gene, with six variants in total.

Immunoblot analysis of fibroblasts derived from two affected fetuses with the homozygous c.687+6T>C variant demonstrated reduced CDK20 levels, and were significantly deficient in cilium formation and function, with abnormal cilium morphology and significantly decreased Hedgehog responsiveness.

This gene has not yet been associated with any relevant phenotypes either in OMIM (last accessed 23 July 2026) or in Gene2Phenotype.
Sources: Literature
Created: 23 Jul 2026, 11:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ciliopathy, MONDO:0005308; Ventriculomegaly, HP:0002119; hydrocephalus, MONDO:0001150

Publications

Created: 23 Jul 2026, 11:58 a.m.

Panel version: 7.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ciliopathy, MONDO:0005308
  • Ventriculomegaly, HP:0002119
  • hydrocephalus, MONDO:0001150
Tags
Q3_26_promote_green
OMIM
610076
Clinvar variants
Variants in CDK20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2026, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: cdk20 has been classified as Amber List (Moderate Evidence).

23 Jul 2026, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_26_promote_green tag was added to gene: CDK20.

23 Jul 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CDK20 was added gene: CDK20 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CDK20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK20 were set to 42409022 Phenotypes for gene: CDK20 were set to ciliopathy, MONDO:0005308; Ventriculomegaly, HP:0002119; hydrocephalus, MONDO:0001150 Review for gene: CDK20 was set to GREEN