Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in AmyloidosisR-numbers: R204 Signed-off version 1.2 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Amyloidosis, Finnish type 105120 |
Green in Corneal dystrophiesR-numbers: R262 Signed-off version 2.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Amyloidosis, Finnish type 105120 |
R-numbers: R78 Signed-off version 2.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Amyloidosis, Finnish type, OMIM:105120, cranial neuropathy, peripheral neuropathy, cutis laxa, cardiomyopathy, MONDO:0004994, arrhythmia |