Genomics England

COG5

component of oligomeric golgi complex 5

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset 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 DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COG5-CDG 319494
Green in Fetal anomalies R-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
Green in Hereditary ataxia with onset in adulthood 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 disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders 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 metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood 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)