Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type IIi 613612, Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes COG5-CDG 319494 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type III, OMIM:613612, COG5-CDG, MONDO:0013325 |
R-numbers: R54 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation type 2i, 613612, Congenital disorder of glycosylation, type Iii 613612 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type III, 613612, COG5-CDG, CDG-III |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital disorder of glycosylation, type IIi 613612, Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) |