Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
R-numbers: R135 Signed-off version 1.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type Im, Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways), Congenital disorder of glycosylation, type Im 610768, syndromic DCM |
Component of the following Super Panels:
Signed-off version 2.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type Im 610768, Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
Green in Congenital muscular dystrophyComponent of the following Super Panels:
R-numbers: R79 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type Im |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379 |
Component of the following Super Panels:
R-numbers: R132 Signed-off version 1.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type Im 610768, Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION |