Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R135 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cardiomyopathy, dilated, 1HH |
Component of the following Super Panels:
R-numbers: R132 Signed-off version 2.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Cardiomyopathy, dilated, 1HH, 613881, Myopathy, myofibrillar, 6, 612954 |
Green in Distal myopathiesComponent of the following Super Panels:
Signed-off version 2.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes myofibrillar myopathy 6, 612954 |
Green in Limb girdle muscular dystrophyComponent of the following Super Panels:
R-numbers: R82 Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Myopathy, myofibrillar, 6, 612954 |