Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
R-numbers: R57 Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Gabriele-de Vries syndrome 617557 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes INTELLECTUAL DISABILITY, OMIM:616579 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes INTELLECTUAL DISABILITY |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Gabriele-de Vries syndrome 617557 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.16 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Gabriele-de Vries syndrome 617557, Gabriele-de Vries syndrome 617557 |