Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Acute rhabdomyolysisR-numbers: R419 Signed-off version 1.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glycogen storage disease XV, OMIM:613507 |
Green in Glycogen storage diseaseR-numbers: R274 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glycogen storage disease XV 613507 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.14 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Glycogen storage disease XV |
Component of the following Super Panels:
Signed-off version 5.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Glycogen storage disease XV 613507, Polyglucosan body myopathy 2 616199 |