Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy 611087 |
Green in HydrocephalusR-numbers: R86 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, MIM:611087 (includes mental retardation), severe psychomotor retardation |
Green in Nephrocalcinosis or nephrolithiasisR-numbers: R256 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 |