Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Meier-Gorlin Syndrome and Craniosynostosis |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Meier-Gorlin Syndrome and Craniosynostosis |
R-numbers: R100 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Coronal synostosis, Meier-Gorlin syndrome 7, 617063 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Craniosynostosis (Wilkie) (from Ana Beleza), Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770) |