Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in Common craniosynostosis syndromesR-numbers: R99 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Chitayat syndrome 617180, Craniosynostosis 4 600775 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes COMPLEX CRANIOSYNOSTOSIS, Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes COMPLEX CRANIOSYNOSTOSIS, Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia |
R-numbers: R100 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Craniosynostosis 4, 600775, Craniosynostosis 4 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.16 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Chitayat syndrome - 617180, Craniosynostosis 4 600775 |