Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
R-numbers: R57 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Rett Syndrome, congenital variant OMIM:613454, Rett syndrome, congenital variant MONDO:0013270 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CONGENITAL VARIANT OF RETT SYNDROME 613454 |
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 Rett syndrome, congenital variantRett Syndrome, congenital variant OMIM:613454, Rett syndrome, congenital variant MONDO:0013270 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Rett Syndrome, congenital variant OMIM:613454, Rett syndrome, congenital variant MONDO:0013270 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Rett Syndrome, congenital variant OMIM:613454, Rett syndrome, congenital variant MONDO:0013270 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Rett Syndrome, congenital variant OMIM:613454, Rett syndrome, congenital variant MONDO:0013270 |