| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.128 | CPLANE2 | Zornitza Stark Marked gene: CPLANE2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.128 | CPLANE2 | Zornitza Stark Gene: cplane2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.128 | CPLANE2 | Zornitza Stark Classified gene: CPLANE2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.128 | CPLANE2 | Zornitza Stark Gene: cplane2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.127 | CPLANE2 |
Zornitza Stark gene: CPLANE2 was added gene: CPLANE2 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: CPLANE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPLANE2 were set to 40593758; 39386566 Phenotypes for gene: CPLANE2 were set to Ciliopathy, MONDO:0005308, CPLANE2-related Review for gene: CPLANE2 was set to GREEN Added comment: PMID 40593758 reports three individuals from unrelated families with biallelic loss-of-function CPLANE2 variants and oral‑facial‑digital syndrome, a syndrome featuring cleft palate, tongue lobulation, pre‑ and post‑axial polydactyly, renal cystic dysplasia and occasional cardiac defects. Variant‑specific functional assays in Xenopus demonstrate disrupted basal‑body docking and impaired IFT‑A2 recruitment. Ciliopathy with skeletal manifestations. Sources: Literature |
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