| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Component of the following Super Panels:
Signed-off version 7.19 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes hereditary ataxia, MONDO:0100309 |
R-numbers: R57 Signed-off version 6.5 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes movement disorder, MONDO:0005395 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.48 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Epilepsy and intellectual disability |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.54 | 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 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.134 | 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 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.13 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Intellectual developmental disorder, autosomal dominant 55, with seizures, OMIM:617831, ?Congenital disorder of glycosylation, type 1aa, OMIM:617082 |