Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 4.102 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SRTD3 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ASPHYXIATING THORACIC DYSTROPHY TYPE 3 613091, SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 263510 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SHORT RIB-POLYDACTYLY SYNDROME TYPE 3, ASPHYXIATING THORACIC DYSTROPHY TYPE 3 |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel, Jeune syndrome, Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 |
Green in Skeletal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.14 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel, Jeune syndrome, Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.31 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091, Short rib polydactyly syndrome (SRPS) type 1/3 (Saldino-Noonan/Verma-Naumoff), Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087 |
R-numbers: R257 Signed-off version 3.11 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel, Short-rib thoracic dysplasia 3 with or without polydactyly, 613091, Short-rib thoracic dysplasia 3 with or without polydactyly, Jeune syndrome |