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Intellectual disability

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

6 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Early developmental delay (speech and motor) can be a feature of Saul-Wilson syndrome (monoallelic inheritance), however cognition is normal. Therefore, the monoallelic form is not pertinent to this panel and the MOI should remain as biallelic only which is associated with CDG-IIj, including psychomotor retardation.
Created: 29 Jul 2021, 2:07 p.m. | Last Modified: 29 Jul 2021, 2:07 p.m.
Panel Version: 3.1213
Created: 29 Jul 2021, 2:07 p.m.
Last Modified: 29 Jul 2021, 2:07 p.m.
Panel version: 3.1213

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.
Panel Version: 3.1510
In response to Zornitza Stark's review, the moi of this gene should be changed from Biallelic to Both monoallelic and biallelic, autosomal or pseudoautosomal.
Created: 30 Jun 2020, 4:46 p.m. | Last Modified: 30 Jun 2020, 4:46 p.m.
Panel Version: 3.124

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 30 Jun 2020, 4:46 p.m.
Last Modified: 30 Jun 2020, 4:46 p.m.
Panel version: 3.1510

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note new gene-disease/new MOI association: Saul-Wilson syndrome (AD) 14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like) All have a recurrent de novo heterozygous missense variant (p.Gly516Arg). Bi-allelic variants cause congenital disorder of glycosylation, type IIj (AR).
Created: 4 Jun 2020, 2:06 a.m. | Last Modified: 4 Jun 2020, 2:06 a.m.
Panel Version: 3.80

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Jun 2020, 2:06 a.m.
Last Modified: 4 Jun 2020, 2:06 a.m.
Panel version: 3.80

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COG4-CDG (CDG-IIJ)

Publications

  • 0

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 5:22 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 2 Aug 2017, 4:02 p.m.

Panel version: 1.354

Lu Raymond (university of cambridge )

I don't know

Created: 23 Feb 2016, 10:03 a.m.

Panel version: 0.306

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIj, 613489
  • COG4-CDG (CDG-IIJ)
OMIM
606976
Clinvar variants
Variants in COG4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: COG4 were set to 25529582

29 Jul 2021, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

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

29 Jul 2021, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: COG4.

30 Jun 2020, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: COG4.

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to COG4.

12 Mar 2018, Gel status: 3

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.

30 Nov 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COG4 were set to Congenital disorder of glycosylation, type IIj, 613489; COG4-CDG (CDG-IIJ)

30 Nov 2017, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COG4 were set to 25529582

5 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High 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)

COG4 was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COG4 was created by ellenmcdonagh