Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Lynch Syndrome, CMMRD |
Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Adult Glioma |
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Class: Familial cancer syndrome, Constitutional mismatch repair deficiency syndrome (Lynch syndrome), Lymphoma, ALL, MDS, AML, Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other |
R-numbers: R210 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |
R-numbers: R207 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Breast and Ovarian Cancer |
Green in Inherited polyposisR-numbers: R211, R209 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Mismatch repair cancer syndrome 276300 AR, Colorectal cancer, hereditary nonpolyposis, type 5 614350 AD, Endometrial cancer, familial 608089 |
Signed-off version 1.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Ovarian cancer |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 1.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 |
R-numbers: R359 Signed-off version 2.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CMMRD, 276300, Lynch Syndrome |