Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900, COFFIN SIRIS SYNDROME 135900 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.9 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Coffin-Siris syndrome 1, 135900 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 12, COFFIN SIRIS SYNDROME |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mental retardation, autosomal dominant 12, 614562, COFFIN SIRIS SYNDROME |
R-numbers: R100 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Coffin-Siris syndrome 1, OMIM:135900 |