Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY 229700 |
Green in Glycogen storage diseaseR-numbers: R274 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fructose-1,6-bisphosphatase deficiency 229700 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glycogen Storage Disease, Glycogen Storage Disorders- Liver, Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis) |