Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in Autoinflammatory disordersR-numbers: R413 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 |
Green in Glycogen storage diseaseR-numbers: R274 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency OMIM:615895, polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0014389 |
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 Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 |
R-numbers: R15 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895, Bacterial infections, autoinflammation, amylopectinosis, Combined immunodeficiencies with associated or syndromic features |
Component of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 |