Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
R-numbers: R56 Signed-off version 3.12 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485 |
R-numbers: R58 Signed-off version 4.41 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485, Aphasia, primary progressive, OMIM:607485, Ceroid lipofuscinosis, neuronal, 11, OMIM:614706 |
Component of the following Super Panels:
Signed-off version 4.40 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 11 OMIM:614706, neuronal ceroid lipofuscinosis 11 MONDO:0013866 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.134 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 11, OMIM:614706, neuronal ceroid lipofuscinosis 1, MONDO:0013866 |
R-numbers: R54 Signed-off version 4.26 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 11 OMIM:614706, neuronal ceroid lipofuscinosis 11 MONDO:0013866 |
Green in Retinal disordersR-numbers: R32 Signed-off version 4.42 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 11, OMIM:614706, neuronal ceroid lipofuscinosis 1, MONDO:0013866 |