| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes TARSAL-CARPAL COALITION SYNDROME 186570, MULTIPLE SYNOSTOSES SYNDROME TYPE 1 186500, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES 184460, BRACHYDACTYLY TYPE B2 611377, SYMPHALANGISM PROXIMAL SYNDROME 185800 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes BRACHYDACTYLY TYPE B2, SYMPHALANGISM PROXIMAL SYNDROME, MULTIPLE SYNOSTOSES SYNDROME TYPE 1, TARSAL-CARPAL COALITION SYNDROME, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Brachydactyly, type B2 611377, Multiple synostoses syndrome 1 186500, Stapes ankylosis with broad thumb and toes 184460, Symphalangism, proximal, 1A 185800, Tarsal-carpal coalition syndrome 186570 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Symphalangism, proximal, 1A 185800, Brachydactyly, type B2 611377, Tarsal-carpal coalition syndrome 186570, Stapes ankylosis with broad thumb and toes 184460, Multiple synostoses syndrome 1 186500 |