Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes LEOPARD syndrome 2 611554, Noonan syndrome 5 611553 |
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes LEOPARD syndrome 2 611554, Noonan syndrome 5 611553 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes NOONAN SYNDROME 5 611553 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes NOONAN SYNDROME 5 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Noonan syndrome 5, 611553LEOPARD syndrome 2, 611554, NOONAN SYNDROME 5 |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes LEOPARD syndrome 2, OMIM:611554, Noonan syndrome 5, OMIM:611553 |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Noonan syndrome 5, Noonan syndrome, Noonan syndrome 5 611553, LEOPARD syndrome 2 611554, syndromic HCM, LEOPARD syndrome, LEOPARD syndrome 2 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes NS5, Noonan syndrome with lentigines (LEOPARD), LEOPARD SYNDROME 2, Noonan syndrome, LPRD2, NOONAN SYNDROME 5 |
Green in Primary lymphoedemaR-numbers: R136 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Noonan syndrome 5 611553, LEOPARD syndrome 2 611554 |