| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA 215140 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes ?Reynolds syndrome 613471, Greenberg skeletal dysplasia 215140, Pelger-Huet anomaly 169400, Pelger-Huet anomaly with mild skeletal anomalies 618019 |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes mesomelia, Greenberg skeletal dysplasia, 215140, rhizomelia, post-axial polydactyly, Polydactyly |
Green in Skeletal ciliopathiesComponent of the following Super Panels:
Signed-off version 5.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Skeletal Ciliopathies, Greenberg skeletal dysplasia, 215140 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pelger-Huet anomaly with mild skeletal anomalies 618019, Greenberg skeletal dysplasia 215140, Pelger-Huet anomaly 169400 |