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  2. Hydrops fetalis
  3. COG6
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Hydrops fetalis

Gene: COG6

Red List (low evidence)
COG6 (component of oligomeric golgi complex 6)
EnsemblGeneIds (GRCh38): ENSG00000133103
EnsemblGeneIds (GRCh37): ENSG00000133103
OMIM: 606977, Gene2Phenotype
COG6 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One family reported with hydrops, though hydrops is a presenting feature of a number of CDGs.
Sources: Expert list
Created: 30 Dec 2019, 2:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iil, MIM#614576

Publications

Created: 30 Dec 2019, 2:07 a.m.

Panel version: 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type Iil, MIM#614576
OMIM
606977
Clinvar variants
Variants in COG6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cog6 has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COG6 was added gene: COG6 was added to Hydrops fetalis_VCGS. Sources: Expert list Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG6 were set to 31420886 Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type Iil, MIM#614576 Review for gene: COG6 was set to RED