Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Noonan syndrome |
R-numbers: R221 Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Fetal hydrops, Noonan syndrome 10, 616564 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Noonan syndrome 10, Prenatal hydrops, increased nuchal translucency, cardiac findings |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Noonan syndrome 10, OMIM:616564 (AD), Noonan syndrome 2, OMIM:605275 (AR) |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 5.13 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Schwannomatosis-2, susceptibility to 615670, Noonan syndrome 10 616564 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes NOONAN SYNDROME 10, NS2, NS10, NOONAN SYNDROME 2, Schwannomatosis-2, susceptibility to 615670, Noonan syndrome 10 616564 |
Green in Primary lymphoedemaR-numbers: R136 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Schwannomatosis-2, susceptibility to 615670, Noonan syndrome 10 616564 |