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Fetal anomalies

Gene: COG8

Green List (high evidence)

COG8 (component of oligomeric golgi complex 8)
EnsemblGeneIds (GRCh38): ENSG00000213380
EnsemblGeneIds (GRCh37): ENSG00000213380
OMIM: 606979, Gene2Phenotype
COG8 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families reported with bi-allelic LOF variants and a broad range of predominantly neurological features (ID, seizures, arthrogryposis, brain malformations).

ID reported in 3/4, presentation in the 4th family was antenatal but with severe neurological phenotype that would have been expected to result in ID.
Created: 29 Oct 2020, 10:51 p.m. | Last Modified: 29 Oct 2020, 10:51 p.m.
Panel Version: 0.3120

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIh, MIM# 611182

Publications

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 30690882: single patient with a homozygous splice COG8 variant, sibling was similarly affected but no DNA available. Patient displayed antenatal phenotype arthrogryposis multiplex congenita, Dandy Walker malformation and ventriculomegaly.
Sources: Literature
Created: 26 Oct 2020, 1:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIh 611182

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
  • Genetic Health Queensland
Phenotypes
  • Congenital disorder of glycosylation, type IIh, MIM# 611182
OMIM
606979
Clinvar variants
Variants in COG8
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: cog8 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: COG8 were changed from COG8-CDG to Congenital disorder of glycosylation, type IIh, MIM# 611182

18 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COG8 were set to 30690882

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: COG8 was added gene: COG8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG8 were set to 30690882 Phenotypes for gene: COG8 were set to COG8-CDG