Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Cardio-Facio-cutanenous syndrome, Noonan syndrome 6 613224, CFC Syndrome |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes NOONAN SYNDROME TYPE 6 613224 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes NOONAN SYNDROME TYPE 6 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Autoimmune lymphoproliferative syndrome type IV, 614470Noonan syndrome 6, 613224Epidermal nevus, somatic, 162900Thyroid carcinoma, follicular, somatic, 188470Colorectal cancer, somatic, 114500, NOONAN SYNDROME TYPE 6 |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Noonan syndrome 6, OMIM:613224 |
R-numbers: R327 Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Congenital melanocytic naevus syndrome, Melanocytic naevi, Noonan syndrome |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes CFC Syndrome, Noonan syndrome, Noonan syndrome 6, Noonan syndrome 6 613224, syndromic HCM, Cardio-Facio-cutanenous syndrome |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Congenital melanocytic naevus syndrome, Melanocytic naevi, NOONAN SYNDROME 6, Noonan syndrome, NS6 |
Green in Primary lymphoedemaR-numbers: R136 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Noonan syndrome 6 613224 |