Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes JEUNE SYNDROMES, SHORT-RIB POLYDACTYLY |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes JEUNE SYNDROMES, SHORT-RIB POLYDACTYLY |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly 615503, Polydactyly |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503, Short-rib thoracic dysplasia 8 with or without polydactyly, Jeune syndrome, SHORT-RIB POLYDACTYLY |
Green in Skeletal ciliopathiesComponent of the following Super Panels:
Signed-off version 5.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503, Short-rib thoracic dysplasia 8 with or without polydactyly, Jeune syndrome, SHORT-RIB POLYDACTYLY |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly 615503 |