| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes LERI-WEILL DYSCHONDROSTEOSIS 127300, LANGER MESOMELIC DYSPLASIA 249700 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 2.1 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes LANGER MESOMELIC DYSPLASIA, LERI-WEILL DYSCHONDROSTEOSIS |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 3.1 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Langer mesomelic dysplasia, 249700, dorsolateral bowed, short radii, bowing of the radius, curved radius, radioulnar shortening, Leri-Weill dyschondrosteosis, 127300 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 3.1 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Langer mesomelic dysplasia 249700, Short stature, idiopathic familial 300582, Leri-Weill dyschondrosteosis 127300 |