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  2. Likely inborn error of metabolism
  3. COG8
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Likely inborn error of metabolism

Gene: COG8

Green List (high evidence)
COG8 (component of oligomeric golgi complex 8)
EnsemblGeneIds (GRCh38): ENSG00000213380
EnsemblGeneIds (GRCh37): ENSG00000213380
OMIM: 606979, Gene2Phenotype
COG8 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
  • Congenital disorder of glycosylation, type IIh 611182
  • Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
OMIM
606979
Clinvar variants
Variants in COG8
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 COG8. Source London North GLH was added to COG8.

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 Congenital disorder of glycosylation, type IIh 611182; Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) for gene: COG8 Publications for gene COG8 were changed from 27604308 to 17220172; 17331980; 11980916

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: COG8 was added gene: COG8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG8 were set to 27604308 Phenotypes for gene: COG8 were set to Congenital disorder of glycosylation, type IIh 611182; Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)