| Panel | Mode of inheritance | Details |
|---|---|---|
3 panels | ||
Green in Leukodystrophy, adult onsetR-numbers: R62 Signed-off version 7.8 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 |
Component of the following Super Panels:
Signed-off version 9.4 | 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 10.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Nasu-Hakola disease 221770 |