Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R167 Signed-off version 1.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CRANIOOSTEOARTHROPATHY 259100 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Cranioosteoarthropathy 259100, Digital clubbing, isolated congenital 119900, Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100 |