| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v0.438 | CENPJ | Zornitza Stark Marked gene: CENPJ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.438 | CENPJ | Zornitza Stark Gene: cenpj has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.438 | CENPJ | Zornitza Stark Classified gene: CENPJ as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.438 | CENPJ | Zornitza Stark Gene: cenpj has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.437 | CENPJ |
Zornitza Stark gene: CENPJ was added gene: CENPJ was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPJ were set to 34068194 Phenotypes for gene: CENPJ were set to Seckel syndrome 4, MIM# 613676 Review for gene: CENPJ was set to AMBER Added comment: PMID 34068194 reports 3 individuals from 2 unrelated families with autosomal recessive homozygous CENPJ variants presenting with Seckel syndrome. Functional assays (RT‑PCR splice assay, immunoblot, immunofluorescence) demonstrate aberrant splicing, reduced CENPJ protein and centrosome amplification, supporting pathogenicity. Sources: Literature |
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