Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Familial tumoral calcinosisR-numbers: R162 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 |
Green in Hypophosphataemia or ricketsR-numbers: R154 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Hypophosphatemic rickets, autosomal dominant (193100) |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Familial tumoural calcinosis, ADHR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2, HFTC2, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hypophosphatemic rickets, autosomal dominant 193100, Osteomalacia, tumor-induced, Tumoral calcinosis, hyperphosphatemic, familial 211900 |