Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R324 Signed-off version 3.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Hyperchylomicronemia, late-onset OMIM:144650, hyperlipoproteinemia type V MONDO:0007762, {Hypertriglyceridemia, susceptibility to} OMIM:145750, hypertriglyceridemia, familial MONDO:0007788 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Hyperchylomicronemia, late-onset OMIM:144650, hyperlipoproteinemia type V MONDO:0007762, {Hypertriglyceridemia, susceptibility to} OMIM:145750, hypertriglyceridemia, familial MONDO:0007788 |