| Panel | Mode of inheritance | Details |
|---|---|---|
3 panels | ||
R-numbers: R167 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 1 OMIM:259100 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CRANIOOSTEOARTHROPATHY 259100 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 9.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Cranioosteoarthropathy 259100, Digital clubbing, isolated congenital 119900, Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100 |