OPDM2_GIPC1
- Gene
- GIPC1
- Disease
- OPDM2
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 15.5
- Publications Reviewed
- 6
- Publication Span
- 4.99 years
- Last Updated
- 06/04/2025
- Curator(s)
- Laurel Hiatt, Harriet Dashnow
Genetic evidence
Total: 9.5
| Singular Evidence | Probands | PMID:32413282 | 6 | 2 families and 6 sporadic cases. Methylation, protein and mRNA level characterization |
| Collective Evidence | Allele | PMID:33374016 | 2 | Longer alleles were associated with earlier age of onset more severe symptoms |
| Singular Evidence | Probands | PMID:39492694 | 1.5 | 3 clinically confirmed cases with long read sequencing (addresses repeated over time) |
3 rows
Experimental evidence
Total: 6
| Rescue | Rescue in cell culture | PMID:39936620 | 2 | |
| Functional Alteration | Patient cells | PMID:39418922 | 2 | |
| Function | Regulatory impact | PMID:35152460 | 2 |
3 rows
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.