GSN

PanelMode of inheritanceDetails
5 panels
R-numbers: R62
Signed-off version 3.23
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, Finnish type, OMIM:105120, Finnish type amyloidosis, MONDO:0007097
R-numbers: R58
Signed-off version 4.41
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, Finnish type, OMIM:105120, Finnish type amyloidosis, MONDO:0007097
R-numbers: R262
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, Finnish type, OMIM:105120
R-numbers: R78
Signed-off version 3.66
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, Finnish type, OMIM:105120, cranial neuropathy, peripheral neuropathy, cutis laxa, cardiomyopathy, MONDO:0004994, arrhythmia
R-numbers: R204
Signed-off version 1.18
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Amyloidosis, Finnish type, OMIM:105120