| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 5.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes 188400, immune deficiency, renal anomalies, 22q11.2 deletion syndrome, 192430, facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay, cleft palate, polydactyly, polyhydramnios, Velocardiofacial syndrome, diaphragmatic hernia, DiGeorge syndrome, congenital heart disease, Learning difficulties |
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 Learning difficulties, immune deficiency, renal anomalies, cleft palate, polydactyly, 22q11.2 deletion syndrome, diaphragmatic hernia, 192430, polyhydramnios, DiGeorge syndrome, Velocardiofacial syndrome, 188400, facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay, congenital heart disease |
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 188400, immune deficiency, renal anomalies, 22q11.2 deletion syndrome, 192430, facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay, cleft palate, polydactyly, polyhydramnios, Velocardiofacial syndrome, diaphragmatic hernia, DiGeorge syndrome, congenital heart disease, Learning difficulties |
R-numbers: R15 Signed-off version 5.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes 188400, immune deficiency, renal anomalies, 22q11.2 deletion syndrome, 192430, facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay, cleft palate, polydactyly, polyhydramnios, Velocardiofacial syndrome, diaphragmatic hernia, DiGeorge syndrome, congenital heart disease, Learning difficulties |