Intellectual disability
Gene: CDK20

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)

I don't know

Comment on list classification: There are two unrelated live individuals reported with biallelic CDK20 variants and with a multisystem phenotype including global developmental delay and/or intellectual disability. Hence, this gene should be rated amber with the current evidence.
Created: 23 Jul 2026, 12:06 p.m. | Last Modified: 23 Jul 2026, 12:41 p.m.

Panel Version: 10.55

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. | Last Modified: 23 Jul 2026, 12:40 p.m.

Panel Version: 10.55

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ciliopathy, MONDO:0005308; Ventriculomegaly, HP:0002119; hydrocephalus, MONDO:0001150; Global developmental delay, HP:0001263

Publications

42409022

Created: 23 Jul 2026, 11:58 a.m.
Last Modified: 23 Jul 2026, 12:41 p.m.
Copied from panel: Hydrocephalus v5.14, Fetal anomalies v7.32

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature
Expert Review Amber

Phenotypes

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

OMIM

610076

Clinvar variants

Variants in CDK20

Penetrance

None

Publications

42409022

Panels with this gene

History Filter Activity

23 Jul 2026, Gel status: 2

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_26_promote_green was removed from gene: CDK20.

23 Jul 2026, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CDK20 was added gene: CDK20 was added to Intellectual disability. Sources: Expert Review Amber,Literature Q3_26_promote_green tags were added to gene: CDK20. 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

Intellectual disability Gene: CDK20