| 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 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia, Speech and language delay, Seizures (not all), Chromosome 17q12 duplication syndrome, 614526, Behavioural difficulties |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia, Speech and language delay, Seizures (not all), Chromosome 17q12 duplication syndrome, 614526, Behavioural difficulties |