| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Gastro-Intestinal Stromal Tumor |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes HUMAN PIEBALDISM 172800 |
Green in Inherited predisposition to GISTR-numbers: R363 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Piebaldism and congenital sensorineural hearing loss |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Mastocytosis, cutaneous, OMIM:154800, Piebaldism, OMIM:172800 |
R-numbers: R332 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mastocytosis, cutaneous, OMIM:154800 |