1. Panels
  2. Prepair 1000+
  3. COG5
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: COG5

Red List (low evidence)
COG5 (component of oligomeric golgi complex 5)
EnsemblGeneIds (GRCh38): ENSG00000164597
EnsemblGeneIds (GRCh37): ENSG00000164597
OMIM: 606821, Gene2Phenotype
COG5 is in 8 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: Upgrade to green
Created: 20 Oct 2024, 6:11 a.m. | Last Modified: 20 Oct 2024, 6:11 a.m.
Panel Version: 1.455
Created: 20 Oct 2024, 6:11 a.m.
Last Modified: 20 Oct 2024, 6:11 a.m.
Panel version: 1.455

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Condition in which the processing of glycans is impaired in Golgi apparatus causing features of disease. Intellectual disability and developmental delay is reported routinely for those affected. Other features reported include truncal ataxia, mild hypotonia, microcephaly, peripheral neuropathy, seizures, hearing loss, vision loss. Established gene-disease association. More than 5 unrelated families reported. Onset in childhood.
Created: 14 Oct 2024, 5:18 a.m. | Last Modified: 14 Oct 2024, 5:18 a.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIi MIM#613612

Publications

Created: 14 Oct 2024, 5:18 a.m.
Last Modified: 14 Oct 2024, 5:18 a.m.
Panel version: 1.420

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Congenital disorder of glycosylation, type IIi, MIM# 613612
Tags
for review
OMIM
606821
Clinvar variants
Variants in COG5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2024, Gel status: 1

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: cog5 has been classified as Red List (Low Evidence).

20 Oct 2024, Gel status: 1

Added Tag

Lilian Downie (Victorian Clinical Genetics Services)

Tag for review tag was added to gene: COG5.

1 Jun 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COG5 was added gene: COG5 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG5 were set to 32174980; 31572517; 23228021 Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi, MIM# 613612