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  2. Likely inborn error of metabolism
  3. COG1
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Likely inborn error of metabolism

Gene: COG1

Green List (high evidence)
COG1 (component of oligomeric golgi complex 1)
EnsemblGeneIds (GRCh38): ENSG00000166685
EnsemblGeneIds (GRCh37): ENSG00000166685
OMIM: 606973, Gene2Phenotype
COG1 is in 8 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
  • Congenital disorder of glycosylation, type IIg 611209
OMIM
606973
Clinvar variants
Variants in COG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to COG1. Source London North GLH was added to COG1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIg 611209 for gene: COG1 Publications for gene COG1 were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: COG1 was added gene: COG1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG1 were set to Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIg 611209