COG4

component of oligomeric golgi complex 4
OMIM: 606976, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green COG4 in Congenital disorders of glycosylation Level 2: Metabolic Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory 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 COG4 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Saul-Wilson syndrome, OMIM:618150 microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407
Green COG4 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Saul-Wilson syndrome, OMIM:618150 microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407
Green COG4 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Green COG4 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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 COG4 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes COG4-CDG Saul-Wilson syndrome, 618150
Green COG4 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes COG4-CDG 319493 Saul-Wilson syndrome 618150
Amber COG4 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Saul-Wilson syndrome, OMIM:618150 microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407
Amber COG4 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIj, OMIM:613489
Green COG4 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIj, 613489 COG4-CDG (CDG-IIJ)
Red COG4 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green COG4 in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Green Phenotypes Saul-Wilson syndrome, OMIM:618150