COG8

Chr 16

component of oligomeric golgi complex 8

NCBI Gene: 84342 ENSG00000213380 UniProt: Q96MW5 OMIM: 606979

The protein is a component of the conserved oligomeric Golgi (COG) complex that maintains Golgi structure and enables intracellular membrane trafficking and glycoprotein modification. Mutations cause congenital disorder of glycosylation type IIh, characterized by severe psychomotor retardation, failure to thrive, seizures, and intolerance to dairy and wheat products due to under-glycosylated serum proteins. This follows autosomal recessive inheritance and the gene shows tolerance to loss-of-function variants (pLI near zero).

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Required for normal Golgi function

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Congenital disorder of glycosylation, type IIhMIM #611182

Clinical highlights

Gene-disease validity (ClinGen)

COG8-congenital disorder of glycosylation · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.13

LOEUF

LOF

Mechanism· G2P