GSN

PanelMode of inheritanceDetails
3 panels
Green
in Amyloidosis
R-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
R-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