Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy 611087 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087, Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611 |
Green in HydrocephalusR-numbers: R86 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, MIM:611087 (includes mental retardation), severe psychomotor retardation |
Green in Nephrocalcinosis or nephrolithiasisComponent of the following Super Panels:
R-numbers: R256 Signed-off version 4.16 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 |