1. Panels
  2. Congenital Disorders of Glycosylation
  3. COG5
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital Disorders of Glycosylation

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 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.
Created: 14 Dec 2020, 5:33 a.m. | Last Modified: 14 Dec 2020, 5:33 a.m.
Panel Version: 0.237

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIi, MIM# 613612

Publications

Created: 14 Dec 2020, 5:33 a.m.
Last Modified: 14 Dec 2020, 5:33 a.m.
Panel version: 0.237

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIi, MIM# 613612
OMIM
606821
Clinvar variants
Variants in COG5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cog5 has been classified as Green List (High Evidence).

14 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COG5 were changed from to Congenital disorder of glycosylation, type IIi, MIM# 613612

14 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COG5 were set to

14 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COG5 was added gene: COG5 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COG5 was set to Unknown