Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, SRTD6 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SHORT RIB-POLYDACTYLY SYNDORME, TYPE II, SHORT RIB-POLYDACTYLY SYNDROME, TYPE II, Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 |
Green in Skeletal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short rib thoracic dysplasia 6 with or without polydactyly - 263520, SRPS type 2 (Majewski), Short Rib Polydactyly Syndrome, Short rib-polydactyly syndrome, type IIA, 263520 |