| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes BRACHYDACTYLY TYPE C 113100, ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE 200700, ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE 201250, DU PAN SYNDROME 228900, SYMPHALANGISM PROXIMAL SYNDROME 185800, BRACHYDACTYLY TYPE A1 112500, BRACHYDACTYLY TYPE A2 112600, MULTIPLE SYNOSTOSES SYNDROME TYPE 2 610017 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes BRACHYDACTYLY TYPE C, SYMPHALANGISM PROXIMAL SYNDROME, DU PAN SYNDROME, BRACHYDACTYLY TYPE A1, ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE, ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE, BRACHYDACTYLY TYPE A2, MULTIPLE SYNOSTOSES SYNDROME TYPE 2 |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 5.4 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Acromesomelic dysplasia, Hunter-Thompson type 201250, Brachydactyly, type A1, C 615072, Brachydactyly, type A2 112600, Brachydactyly, type C 113100, Chondrodysplasia, Grebe type 200700, Du Pan syndrome 228900, Multiple synostoses syndrome 2 610017, Symphalangism, proximal, 1B 615298, {Osteoarthritis-5} 612400, Polydactyly |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Brachydactyly, type C 113100, Acromesomelic dysplasia, Hunter-Thompson type 201250, Du Pan syndrome 228900, {Osteoarthritis-5} 612400, Chondrodysplasia, Grebe type 200700, Brachydactyly, type A2 112600, Brachydactyly, type A1, C 615072, Symphalangism, proximal, 1B 615298, Multiple synostoses syndrome 2 610017 |