Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Congenital hyperinsulinismR-numbers: R144 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hyperinsulinism-hyperammonemia syndrome, 606762, Hyperinsulinism, Dominant |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes HYPERINSULINISM-HYPERAMMONEMIA SYNDROME 606762 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hyperinsulinism-hyperammonemia syndrome, 606762, epilepsy |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias), Hyperinsulinism-hyperammonemia syndrome, 606762 |