Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
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 PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly |