Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Component of the following Super Panels:
Signed-off version 6.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type IIb 606056, MOGS-CDG (Disorders of protein N-glycosylation) |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type IIb, 606056 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type IIb, OMIM:606056, MOGS-CDG, MONDO:0011629 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type IIb, 606056 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type IIb 606056, MOGS-CDG (Disorders of protein N-glycosylation), Congenital disorder of glycosylation, type IIb, 606056, (MOGS-CDG (Disorders of protein N-glycosylation)) |
R-numbers: R15 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type IIb 606056, Bacterial and viral infections, severe neurologic disease, also known as congenital disorder of glycosylation type IIb (CDG-IIb), Predominantly Antibody Deficiencies |