| Panel | Mode of inheritance | Details |
|---|---|---|
3 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 |
Component of the following Super Panels:
R-numbers: R58 Signed-off version 9.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, OMIM:221770 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 9.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Nasu-Hakola disease 221770 |