| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes SUFU associated Medulloblastoma |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 2.1 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Joubert syndrome 32, OMIM: 617757, Joubert Syndrome with Cranio-facial and Skeletal Defects |
Green in HydrocephalusR-numbers: R86 Signed-off version 3.5 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Basal cell nevus syndrome, OMIM:109400 |
R-numbers: R359 Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Medulloblastoma, desmoplastic, 155255, Basal cell nevus syndrome, 109400, SUFU associated Medulloblastoma |