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  3. COG4
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Fetal anomalies

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 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene are associated with CDG. Microcephaly in some.

Saul-Wilson syndrome is associated with mono-allelic variants: skeletal dysplasia, including prenatal findings.
Created: 4 Jun 2020, 1:45 a.m. | Last Modified: 18 Nov 2021, 9:13 a.m.
Panel Version: 0.555

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Created: 4 Jun 2020, 1:45 a.m.
Last Modified: 18 Nov 2021, 9:13 a.m.
Panel version: 0.555

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

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)

Congenital disorder of glycosylation, type IIj (AR)
Created: 3 Jun 2020, 11:32 p.m. | Last Modified: 3 Jun 2020, 11:32 p.m.
Panel Version: 0.2663

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

Created: 3 Jun 2020, 11:32 p.m.
Last Modified: 3 Jun 2020, 11:32 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2663

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIj 613489
  • Saul-Wilson syndrome, MIM #618150
OMIM
606976
Clinvar variants
Variants in COG4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COG4 were changed from COG4-CDG; Saul-Wilson syndrome, 618150 to Congenital disorder of glycosylation, type IIj 613489; Saul-Wilson syndrome, MIM #618150

18 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COG4 were set to 30290151

18 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COG4 was added gene: COG4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG4 were set to 30290151 Phenotypes for gene: COG4 were set to COG4-CDG; Saul-Wilson syndrome, 618150