Congenital Disorders of Glycosylation
Gene: COG6

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)

Green List (high evidence)

More than 5 unrelated families reported. Key features include growth retardation, developmental delay, microcephaly, liver and gastrointestinal disease, joint contractures and episodic fever. Ectodermal signs such as hypohidrosis/hyperthermia, hyperkeratosis and tooth anomalies are prominent.

Note Shaheen syndrome, MIM#615328 is an allelic disorder, with overlapping clinical features, but normal transferring isoforms recorded creating confusion about whether it represents a distinct entity.
Created: 14 Dec 2020, 6:01 a.m. | Last Modified: 14 Dec 2020, 6:01 a.m.

Panel Version: 0.240

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 14 Dec 2020, 6:01 a.m.
Last Modified: 14 Dec 2020, 6:01 a.m.
Panel version: 0.240

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Congenital disorder of glycosylation, type IIl, MIM# 614576

OMIM

606977

Clinvar variants

Variants in COG6

Penetrance

None

Publications

Panels with this gene