Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in Congenital muscular dystrophyComponent of the following Super Panels:
R-numbers: R79 Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Myotonic dystrophy 1, OMIM:160900 |
Green in Congenital myopathyComponent of the following Super Panels:
R-numbers: R81 Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Myotonic dystrophy 1, OMIM:160900 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Myotonic dystrophy 1, OMIM:160900 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Myotonic dystrophy 1, OMIM:160900 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Myotonic dystrophy 1, OMIM:160900 |
Green in Skeletal muscle channelopathyR-numbers: R76 Signed-off version 2.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Myotonic dystrophy 1, OMIM:160900 |