Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes SPOP-related Neurodevelopmental Disorder, gain of function, SPOP-related Neurodevelopmental Disorder, dominant negative |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Nabais Sa-de Vries syndrome, type 1, 618828, Nabais Sa-de Vries syndrome, type 2, 618829 |