| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Component of the following Super Panels:
Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes microcephaly, Developmental delay, muscle weakness, 176270, Angelman syndrome, Prader-Willi syndrome, 105830, Mental retardation |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes microcephaly, Developmental delay, muscle weakness, Mental retardation, Angelman syndrome, 176270, Prader-Willi syndrome, 105830 |
R-numbers: R54 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes microcephaly, 176270, Mental retardation, Angelman syndrome, Prader-Willi syndrome, Developmental delay, muscle weakness, 105830 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes microcephaly, Developmental delay, muscle weakness, Mental retardation, Angelman syndrome, 176270, Prader-Willi syndrome, 105830 |
Green in Paediatric motor neuronopathiesComponent of the following Super Panels:
Signed-off version 3.8 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes microcephaly, Developmental delay, muscle weakness, Mental retardation, Angelman syndrome, 176270, Prader-Willi syndrome, 105830 |
Green in Severe early-onset obesityR-numbers: R149 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes microcephaly, Developmental delay, muscle weakness, Mental retardation, Angelman syndrome, 176270, Prader-Willi syndrome, 105830 |