Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R58 Signed-off version 4.41 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, OMIM:613954 |
Green in Distal myopathiesComponent of the following Super Panels:
Signed-off version 3.16 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 |
R-numbers: R78 Signed-off version 3.66 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Charcot-Marie-Tooth disease, type 2Y, OMIM:616687 |
Component of the following Super Panels:
R-numbers: R82 Signed-off version 4.24 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 |