1. Panels
  2. DDG2P
  3. COG4
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: COG4

Green List (high evidence)
COG4 (component of oligomeric golgi complex 4)
EnsemblGeneIds (GRCh38): ENSG00000103051
EnsemblGeneIds (GRCh37): ENSG00000103051
OMIM: 606976, Gene2Phenotype
COG4 is in 12 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease Saul Wilson Syndrome, OMIM:618150 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290151). The DDG2P confidence category for the disease COG4-CDG, OMIM:319493 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Saul Wilson Syndrome, OMIM:618150; COG4-CDG, OMIM:319493

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

New gene:disorder association added to DDG2P in March 2019: Saul-Wilson syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. (Note that Saul-Wilson syndrome disorder was already associated with COG4 in DD-G2P but with a 'gain of function' MOP. The new entry exists in addition).
Created: 19 Apr 2019, 2:39 p.m.
Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for COG4-CDG. MOI is biallelic for COG4-CDG and monoallelic for Saul-Wilson syndrome; changed MOI from 'both biallelic and monoallelic' to just 'biallelic' to match MOI of confirmed disorder only.
Created: 28 Jan 2019, 2:29 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 27 Nov 2018, 10:30 a.m.
Comment on list classification: Updated rating from Green to Amber while panel is still V0 and unreviewed: Rated confirmed by DDG2P for COG4-CDG 319493, and Rated probable for recently-added Saul-Wilson syndrome.
Created: 27 Nov 2018, 10:29 a.m.
Comment on mode of inheritance: Updated MOI from 'biallelic to both monoallelic and biallelic': Multiple MOIs in DD-G2P download: monoallelic for Saul-Wilson syndrome, and biallelic for COG4-CDG.
Created: 27 Nov 2018, 10:25 a.m.
New gene:disorder association added to DDG2P on 07/11/2018: Saul-Wilson syndrome. Multiple DDG2P ratings: Rated confirmed for COG4-CDG 319493 and Rated probable for Saul-Wilson syndrome: Multiple MOPs in DDG2P: gain of function for Saul-Wilson syndrome, and loss of function for COG4-CDG 319493. Multiple MOIs in DD-G2P download: monoallelic for Saul-Wilson syndrome, and biallelic for COG4-CDG.
Created: 27 Nov 2018, 10:20 a.m.
Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Saul-Wilson syndrome

Created: 19 Nov 2018, 11:29 a.m.

Panel version: 1.14

History Filter Activity

6 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: COG4.

4 Oct 2023, Gel status: 3

Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene COG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COG4 were updated from to 30290151

8 Oct 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: COG4 were changed from COG4-CDG 319493; Saul-Wilson syndrome to COG4-CDG 319493; Saul-Wilson syndrome 618150

29 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

28 Jan 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: COG4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

28 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cog4 has been classified as Green List (High Evidence).

27 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: COG4.

27 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cog4 has been classified as Amber List (Moderate Evidence).

27 Nov 2018, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: COG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

27 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: COG4 were changed from COG4-CDG 319493 to COG4-CDG 319493; Saul-Wilson syndrome

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: COG4 was added gene: COG4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG4 were set to COG4-CDG 319493