| Panel | Mode of inheritance | Details |
|---|---|---|
2 panels | ||
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 Smith-Magenis syndrome, OMIM:182290, Smith-Magenis syndrome, MONDO:0008434 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Potocki-Lupski syndrome, hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders, Smith-Magenis syndrome, Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance, 182290, moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems, hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies, Dental abnormalities |