Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Bleeding and platelet disordersR-numbers: R90 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 202400 Afibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital |
Green in Hereditary systemic amyloidosisComponent of the following Super Panels:
R-numbers: R204 Signed-off version 1.22 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Amyloidosis, familial visceral, OMIM:105200 |
R-numbers: R97 Signed-off version 2.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital |