Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in Bleeding and platelet disordersR-numbers: R90 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes (NO OMIM NUMBER), Myopathy associated with thrombocytopenia |
Component of the following Super Panels:
Signed-off version 2.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Nonaka myopathy 605820, ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
Green in Distal myopathiesComponent of the following Super Panels:
Signed-off version 1.21 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Nonaka myopathy, 605820 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Nonaka myopathy 605820, Sialuria (Other lysosomal disorders), UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways), ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
Green in Limb girdle muscular dystrophyComponent of the following Super Panels:
R-numbers: R82 Signed-off version 2.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Nonaka myopathy, 605820, Distal myopathy, Limb girdle muscular dystrophy, Limb-girdle muscular dystrophy, quadriceps sparing myopathy, distal myopathy, Nonaka myopathy, HIBM |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Sialuria 269921 (AD), Nonaka myopathy 605820 |