Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SPRED2-related Noonan syndrome |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, a typical facial gestalt |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Noonan syndrome 14, OMIM:619745 |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, a typical facial gestalt |