| Panel | Mode of inheritance | Details |
|---|---|---|
2 panels | ||
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 5.10 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep, 300801 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep, 300801 |