Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Component of the following Super Panels:
Signed-off version 2.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type In 612015, Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type In, 612015 |
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 In 612015, Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) |
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 In, 612015, CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N |
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 In 612015 |