| Panel | Mode of inheritance | Details |
|---|---|---|
9 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Melanocytic Tumor syndrome, Familial Uveal Melanoma |
R-numbers: R422 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |
Green in Childhood solid tumoursSigned-off version 5.11 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Tumor predisposition syndrome 1, OMIM:614327, {Uveal melanoma, susceptibility to, 2}, OMIM:606661 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes BAP1-associated neurodevelopmental syndrome |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 9.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Kury-Isidor syndrome, OMIM:619762 |
Green in Familial melanomaR-numbers: R254 Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |
Green in Inherited renal cancerR-numbers: R224 Signed-off version 1.28 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Tumor predisposition syndrome 1, OMIM:614327, {Uveal melanoma, susceptibility to, 2}, OMIM:606661 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 10.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Kury-Isidor syndrome, OMIM:619762 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Tumor predisposition syndrome 1, OMIM:614327, {Uveal melanoma, susceptibility to, 2}, OMIM:606661 |