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.
GJA8
- Curation Status: Complete
- id: ISCA-1479
- Date last evaluated: 2012-02-23
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about GJA8 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/2703
- OMIM: https://omim.org/entry/600897
- ClinGen Haploinsufficiency Score: 1
- ClinGen Triplosensitivity Score: 0
- See related regions:
- 1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5)
Select assembly:
(NC_000001.10)
(NC_000001.11)
- Haploinsufficiency score: 1
- Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
| PubMed ID | Description |
|---|---|
| 18006672 | Arora 2008: novel GJA8 mutation, Cx50D47N, segregated in family with congenital nuclear pulverulent cataracts; functional studies in HeLa cells and xenopus oocytes suggest this mutation acts as a loss-of-function mutation. |
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity