Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 |
R-numbers: R58 Signed-off version 5.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193, Dystonia |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Nasu-Hakola disease 221770 |
Component of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY, Calcifications in basal ganglia, Nasu-Hakola disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) |