| Panel | Mode of inheritance | Details |
|---|---|---|
2 panels | ||
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Cortical visual impairment, Failure to thrive, Seizures, Congenital microcephaly, Epileptic encephalopathy, early infantile, 73, Abnormal muscle tone, Feeding difficulties, Intellectual disability, Global developmental delay, Sensorineural hearing impairment |
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 Cortical visual impairment, Epileptic encephalopathy, early infantile, 73, 618379, Failure to thrive, Seizures, Congenital microcephaly, Abnormal muscle tone, Feeding difficulties, Intellectual disability, Global developmental delay, Sensorineural hearing impairment |