| Panel | Mode of inheritance | Details |
|---|---|---|
3 panels | ||
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.9 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes posteriorly rotated, low-set, abnormal ears, brachycephaly, epicanthus, heart defects, pointed chin, deep-set eyes, microcephaly, hypotonia, seizures, poor/absent speech, central nervous system anomalies, large anterior fontanels, microbrachycephaly, mental retardation, growth impairment, large, late-closing anterior fontanel, flat nose, nasal bridge, developmental delay, hearing impairment, distinct dysmorphic features, 1p36 deletion syndrome, 607872 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes posteriorly rotated, low-set, abnormal ears, brachycephaly, epicanthus, heart defects, pointed chin, deep-set eyes, microcephaly, hypotonia, seizures, poor/absent speech, central nervous system anomalies, large anterior fontanels, microbrachycephaly, mental retardation, growth impairment, large, late-closing anterior fontanel, flat nose, nasal bridge, developmental delay, hearing impairment, distinct dysmorphic features, 1p36 deletion syndrome, 607872 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.16 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes posteriorly rotated, low-set, abnormal ears, brachycephaly, epicanthus, heart defects, pointed chin, deep-set eyes, microcephaly, hypotonia, seizures, poor/absent speech, central nervous system anomalies, large anterior fontanels, microbrachycephaly, mental retardation, growth impairment, large, late-closing anterior fontanel, flat nose, nasal bridge, developmental delay, hearing impairment, distinct dysmorphic features, 1p36 deletion syndrome, 607872 |