Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Long QT syndromeComponent of the following Super Panels:
R-numbers: R127 Signed-off version 3.1 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Jervell and Lange-Nielsen syndrome 2, OMIM:612347, Long QT syndrome 5, OMIM:613695 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Jervell and Lange-Nielsen syndrome 2, OMIM:612347 |