Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes SUFU associated Medulloblastoma |
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Basal cell nevus syndrome, OMIM:109400, {Medulloblastoma}, OMIM:155255, {Meningioma, familial, susceptibility to}, OMIM:607174 |
R-numbers: R221 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | 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 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Basal cell nevus syndrome, OMIM:109400 |
R-numbers: R214 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |