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

Cataract

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

1 review

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)
Sources: Literature
Created: 3 Jun 2020, 11:29 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
PMID: 31949312; 30290151

Publications

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

Created: 3 Jun 2020, 11:29 p.m.

Panel version: 0.139

Details

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

History Filter Activity

4 Jun 2020, 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).

4 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489

4 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COG4 were changed from PMID: 31949312; 30290151 to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

3 Jun 2020, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: COG4 was added gene: COG4 was added to Cataract. Sources: Literature Mode of inheritance for gene: COG4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489 Phenotypes for gene: COG4 were set to PMID: 31949312; 30290151 Review for gene: COG4 was set to GREEN