Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 |
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes 613563, Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA 613563 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA |
Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Class: Ras-opathy, Noonan-like, JMML |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes NSLL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, Noonan-like disorder |
Green in Primary lymphoedemaR-numbers: R136 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 |