ClinGen Dosage Sensitivity Curation Page
See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at www.clinicalgenome.org. Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.
COG8
- Curation Status: Complete
- id: ISCA-36859
- Date last evaluated: 2015-03-25
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about COG8 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/84342
- OMIM: https://omim.org/entry/606979
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1332/?term=COG8
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
Select assembly:
(NC_000016.9)
(NC_000016.10)
- Haploinsufficiency score: Gene associated with autosomal recessive phenotype
- Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
- Haploinsufficiency Phenotype: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H
Haploinsufficiency phenotype comments:
Variants in COG8 have been described in congenital disorder of glycosylation type IIh, an autosomal recessive disorder.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity