Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
R-numbers: R57 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973, intellectual disability, autosomal dominant 42 MONDO:0014855 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973, intellectual disability, autosomal dominant 42 MONDO:0014855 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973, intellectual disability, autosomal dominant 42 MONDO:0014855 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973, intellectual disability, autosomal dominant 42 MONDO:0014855 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973, intellectual disability, autosomal dominant 42 MONDO:0014855 |