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Gene: CDK10

Green List (high evidence)

Gene-disease association and phenotype: 9 individuals reported across 5 families by Winderpassinger et al. (2017) PMID:28886341 with homozygous variants in CDK10. Publication described individuals presenting at birth with phenotype of growth restriction, spine malformation, facial dysmorphisms, moderate to severe developmental delays. The same author demonstrated disease in CDK10 knock-out mice - lethality and growth restriction.
Guen et al. (2017) - case of 11 year old that had IUGR, growth restriction, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism - found to have homozygous pathogenic variant in CDK10. Additional report of CDK10 homozygous variant causing hydrops, brain malformation, heart and kidney abnormalities in utero (PMID: 34974531).
Phenotype is severe and onset is during early childhood/infancy (or in utero) in cases reported in literature.

Created: 29 Jul 2024, 11:34 a.m. | Last Modified: 29 Jul 2024, 11:34 a.m.

Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Al Kaissi syndrome MIM#617694

Publications

• 28886341 29130579 34974531