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Intellectual disability

Gene: COG5

Green List (high evidence)

COG5 (component of oligomeric golgi complex 5)
EnsemblGeneIds (GRCh38): ENSG00000164597
EnsemblGeneIds (GRCh37): ENSG00000164597
OMIM: 606821, Gene2Phenotype
COG5 is in 12 panels

5 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases, appropriate phenotype
Created: 5 Mar 2018, 11:33 a.m.

Eleanor Williams (Genomics England Curator)

Comment on list classification: Now 3 independent cases of congenital disorders of glycosylation with severe ID, and 4 familes (6 individuals) with mild to moderate ID. Paesold-Burda et al 2009 (PMID:19690088), Fung et al 2012 (PMID:23430875), Rymen et al 2012 (PMID:23228021), Kim et al 2017 (PMID: 28960046). Functional analysis by Rymen et al also suggests that the mutations are likely to cause the phenotype.
Created: 1 Mar 2018, 9:36 p.m.

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COG5-CDG (CDG-III)

Publications

  • 0

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Only one child reported to date
Created: 5 Feb 2016, 10:21 p.m.

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to COG5.

14 Mar 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COG5 were set to Congenital disorder of glycosylation, type III, 613612; COG5-CDG; CDG-III

14 Mar 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COG5 were set to Congenital disorder of glycosylation, type III, 613612; COG5-CDG; CDG-III)

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to COG5. Panel: Intellectual disability Model of inheritance for gene COG5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene COG5 was set to ['19690088', '23430875', '23228021', '28960046']

5 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

5 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COG5 was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COG5 was created by ellenmcdonagh