| Panel | Mode of inheritance | Details |
|---|---|---|
2 panels | ||
Green in Monogenic hearing lossR-numbers: R67 Signed-off version 3.3 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Waardenburg syndrome, type 4B, 613265, Central hypoventilation syndrome, congenital, 209880, {Hirschsprung disease, susceptibility to}, 613712 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 2.1 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes WAARDENBURG SYNDROME, TYPE 4B, WS4B, Waardenburg syndrome |