Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 4.102 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, SRTD2 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ASPHYXIATING THORACIC DYSTROPHY 2 611263 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ASPHYXIATING THORACIC DYSTROPHY 2 |
Green in Skeletal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.14 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, Jeune syndrome, Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 |
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 2 with or without polydactyly 611263 |