| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Component of the following Super Panels:
Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems, hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636, chromosome 15q11-q13 duplication syndrome |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636, chromosome 15q11-q13 duplication syndrome, autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems, hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636, chromosome 15q11-q13 duplication syndrome |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636, chromosome 15q11-q13 duplication syndrome, autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems |