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 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Mental retardation, autosomal dominant 55, with seizures, OMIM:617831, Congenital disorder of glycosylation, type 1aa, OMIM:617082 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Mental retardation, autosomal dominant 55, with seizures, OMIM:617831, Congenital disorder of glycosylation, type 1aa, OMIM:617082 |