Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 4.102 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, SRTD9 |
Green in Cystic kidney diseaseComponent of the following Super Panels:
Signed-off version 4.19 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920, short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964, cystic kidney disease, MONDO:0002473 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MAINZER-SALDINO SYNDROME 266920 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MAINZER-SALDINO SYNDROME |
R-numbers: R100 Signed-off version 4.177 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920 |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920, short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964, cystic kidney disease, MONDO:0002473 |
Green in Retinal disordersR-numbers: R32 Signed-off version 4.42 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Genetic Retinal Degeneration Conditions |
Green in Skeletal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.14 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Saldino-Mainzer syndrome, Jeune syndrome, Short-rib thoracic dysplasia 9 with or without polydactyly, 266920, Mainzer-Saldino Syndrome, Short-rib thoracic dysplasia 9 with or without polydactyly |
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 9 with of without polydactyly, 266920 |