COG4

component of oligomeric golgi complex 4
OMIM: 606976, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green COG4 in Cataract Level 2: Ophthalmological disorders Version 0.375	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Saul-Wilson syndrome, OMIM #618150 Congenital disorder of glycosylation, type IIj, OMIM #613489
Green COG4 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.78 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIj 613489
Green COG4 in Mendeliome Version 1.3512	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Saul-Wilson syndrome, OMIM #618150 Congenital disorder of glycosylation, type IIj, OMIM #613489
Amber COG4 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type IIj, MIM#613489
Green COG4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Saul-Wilson syndrome, OMIM #618150 Congenital disorder of glycosylation, type IIj, OMIM #613489
Green COG4 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Saul-Wilson syndrome, OMIM #618150
Green COG4 in Microcephalic Primordial Dwarfism and Slender bone dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Saul-Wilson syndrome, OMIM:618150 Microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407
Red COG4 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Congenital disorder of glycosylation, type IIj
Green COG4 in Growth failure Version 1.83	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Saul-Wilson syndrome, OMIM:618150 Microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407
Green COG4 in Fetal anomalies Version 1.465	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIj 613489 Saul-Wilson syndrome, MIM #618150
Red COG4 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type IIj