Panel | Mode of inheritance | Details |
---|---|---|
10 panels | ||
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Rothmund Thomson Syndrome, 268400 |
R-numbers: R237 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Rothmund-Thomson syndrome, 268400 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes RAPADILINO SYNDROME 266280, BALLER-GEROLD SYNDROME 218600, ROTHMUND-THOMSON SYNDROME 268400 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, BALLER-GEROLD SYNDROME |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 4.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Baller-Gerold syndrome 218600, RAPILINO syndrome 266280, RAPILINO syndrome, 266280, Rothmund-Thomson syndrome, 268400, Rothmund-Thomson syndrome 268400, Baller-Gerold syndrome, 218600 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Rothmund-Thompson syndrome, RTS2, RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, TYPE 2 |
R-numbers: R15 Signed-off version 4.123 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined immunodeficiency, Rothmund-Thomson syndrome, 268400 |
R-numbers: R100 Signed-off version 4.177 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 218600, Baller-Gerold syndrome 218600 |
Green in Sarcoma susceptibilitySigned-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes, Osteosarcoma |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.31 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes RAPILINO syndrome 266280, Rothmund-Thomson syndrome 268400, Baller-Gerold syndrome 218600 |