Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | 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 4.0 | 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 3.8 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes retinitis pigmentosa, MONDO:0019200 |
Green in Skeletal ciliopathiesComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 |