Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Component of the following Super Panels:
Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type Ip 613661, ALG11-CDG (Disorders of protein N-glycosylation) |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ALG11-CDG 319490 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 5.10 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type Ip |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type Ip 613661, ALG11-CDG (CDG-IP) |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 5.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ALG11-CDG (Disorders of protein N-glycosylation), Congenital disorder of glycosylation, type Ip 613661 |