Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R57 Signed-off version 6.5 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.48 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.80 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600, Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.26 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542 |