| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Colorectal cancer, Endometrial cancer |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM |
R-numbers: R211 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes {Colorectal cancer, susceptibility to, 10}, OMIM:612591, Colorectal cancer, susceptibility to, 10, MONDO:0012953 |
Green in Lipodystrophy - childhood onsetR-numbers: R158 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 |
Green in Monogenic diabetesR-numbers: R141 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381, multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males, Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males, Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 |
R-numbers: R15 Signed-off version 6.12 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability, Polymerase d 1 deficiency, Immunodeficiencies affecting cellular and humoral immunity |