Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CRANIOECTODERMAL DYSPLASIA TYPE 3 614099 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CRANIOECTODERMAL DYSPLASIA TYPE 3 |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cranioectodermal dysplasia 3, 614099, Sensenbrenner syndrome, Short-rib thoracic dysplasia 18 with polydactyly, 617866 |
Green in Skeletal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.14 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cranioectodermal dysplasia 3, 614099, Sensenbrenner syndrome, Short-rib thoracic dysplasia 18 with polydactyly, 617866 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.31 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 18 with polydactyly - 617866, ?Cranioectodermal dysplasia 3 - 614099 |
R-numbers: R257 Signed-off version 3.11 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cranioectodermal dysplasia 3, 614099, Sensenbrenner syndrome, Short-rib thoracic dysplasia 18 with polydactyly, 617866 |