| Panel | Mode of inheritance | Details |
|---|---|---|
5 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes |
Green in CleftingComponent of the following Super Panels:
Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Skeletal dysplasia with midline cleft palate, Orofacial Clefting with skeletal features, Spondylocarpotarsal synostosis syndrome (includes clefting), BIALLELIC, autosomal or pseudoautosomal, 272460, Larsen syndrome (includes clefting) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 150250, Atelosteogenesis, type I (includes clefting), MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 108720, Atelosteogenesis, type III MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (includes clefting), 108721 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes AUTOSOMAL DOMINANT LARSEN SYNDROME 150250, ATELOSTEOGENESIS TYPE 3 108721, ATELOSTEOGENESIS TYPE 1 108720, BOOMERANG DYSPLASIA 112310, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 272460 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes ATELOSTEOGENESIS TYPE 1, BOOMERANG DYSPLASIA, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, AUTOSOMAL DOMINANT LARSEN SYNDROME, ATELOSTEOGENESIS TYPE 3 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Spondylocarpotarsal synostosis syndrome 272460, Atelosteogenesis, type III 108721, Boomerang dysplasia 112310, Atelosteogenesis, type I 108720, Larsen syndrome 150250 |