| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.19 | CDK10 | chirag patel Marked gene: CDK10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.19 | CDK10 | chirag patel Gene: cdk10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.19 | CDK10 | chirag patel Classified gene: CDK10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.19 | CDK10 | chirag patel Gene: cdk10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.18 | CDK10 |
chirag patel gene: CDK10 was added gene: CDK10 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK10 were set to 41836559; 40960173; 36503922; 34369103; 28886341 Phenotypes for gene: CDK10 were set to Al Kaissi syndrome, MONDO:0044324 Review for gene: CDK10 was set to GREEN Added comment: Multiple individuals from unrelated families reported with biallelic loss-of-function CDK10 variants (splice-site or frameshift) presenting with Al Kaissi syndrome. This is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation particularly of the cervical spine (including clefting, segmentation anomalies, and improper fusion), dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability. Mouse osteoblast‑specific Cdk10 knockout recapitulates skeletal phenotype. Sources: Literature |
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