Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 31, Short-rib thoracic dysplasia 13 with or without polydactyly |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 31 (617761), Short-rib thoracic dysplasia 13 with or without polydactyly (616300) |
Green in Skeletal ciliopathiesComponent of the following Super Panels:
Signed-off version 5.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, Jeune syndrome, Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel, Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 213300, Short-rib thoracic dysplasia 13 with or without polydactyly 616300 |