Genomics England

COG4

component of oligomeric golgi complex 4

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.14	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Saul-Wilson syndrome, OMIM:618150, microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type IIj 613489, Component of COG complex 4 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 4.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes COG4-CDG 319493, Saul-Wilson syndrome 618150
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COG4-CDG, Saul-Wilson syndrome, 618150
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation, type IIj, 613489, COG4-CDG (CDG-IIJ)
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency), Congenital disorder of glycosylation, type IIj 613489
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Saul-Wilson syndrome, OMIM:618150
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Saul-Wilson syndrome, OMIM:618150, microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407