Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R61 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657, Intellectual disability |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657 |