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| Intellectual disability v10.55 | CDK20 | Achchuthan Shanmugasundram Tag Q3_26_promote_green was removed from gene: CDK20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.55 | CDK20 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated families reported with biallelic CDK20 variants and with a multisystem phenotype including ventriculomegaly/ hydrocephalus. Hence, this gene can be promoted to green rating in the next GMS update.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.55 | CDK20 |
Achchuthan Shanmugasundram changed review comment from: 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. Ventriculomegaly and/ or hydrocephalus was reported in four foetuses from two unrelated families and a live child from another family. 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; to: 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 |
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| Intellectual disability v10.55 | CDK20 | Achchuthan Shanmugasundram edited their review of gene: CDK20: Changed rating: AMBER; Changed phenotypes to: ciliopathy, MONDO:0005308, Ventriculomegaly, HP:0002119, hydrocephalus, MONDO:0001150, Global developmental delay, HP:0001263 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.55 | CDK20 | Achchuthan Shanmugasundram Entity copied from Hydrocephalus v5.14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.55 | CDK20 |
Achchuthan Shanmugasundram 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 |
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