Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Component of the following Super Panels:
Signed-off version 2.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type IIc 266265, GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C 266265 |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways), Congenital disorder of glycosylation, type IIc 266265 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type IIc, 266265, CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C (CDG2C) |
Green in Primary immunodeficiencyR-numbers: R15 Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type IIc 266265, Leukocyte adhesion deficiency (LAD), Mild LAD type 1 features with hh-blood group, growth retardation, developmental delay, Congenital defects of phagocyte number or function |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type IIc 266265, GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |