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Inborn errors of metabolism

Gene: COG2

Red List (low evidence)

COG2 (component of oligomeric golgi complex 2)
EnsemblGeneIds (GRCh38): ENSG00000135775
EnsemblGeneIds (GRCh37): ENSG00000135775
OMIM: 606974, Gene2Phenotype
COG2 is in 2 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • ?Congenital disorder of glycosylation, type IIq, 617395
OMIM
606974
Clinvar variants
Variants in COG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: COG2 was added gene: COG2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG2 were set to 11980916; 24784932 Phenotypes for gene: COG2 were set to ?Congenital disorder of glycosylation, type IIq, 617395