OPDM_ABCD3
- Gene
- ABCD3
- Disease
- OPDM
- Inheritance
- AD
- Classification
- Moderate
- Total Score
- 11
- Publications Reviewed
- 1
- Publication Span
- Last Updated
- 8/14/25
- Curator(s)
- Laurel Hiatt, Macayla Weiner
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.
Genetic evidence
Total: 8.5
| Singular Evidence | Probands | PMID:39068203 | 6 | 8 unrelated families with info, and TWO families have functional information | ||
| Collective Evidence | Allele | PMID:39068203 | 1 | length and onset | Negative correlation between repeat expansion size and age-of-onset in affected males (y = 3.029x + 272.8, n = 6, p = 0.0063) | |
| Collective Evidence | Segregation | PMID:39068203 | 1.5 | LOD 2.98, WES |
3 rows
Experimental evidence
Total: 2.5
| Function | Biochemical function | PMID:39068203 | 0.5 | transc upreg | ||
| Function | Regulatory Impact | PMID:39068203 | 0.5 | overexp | ||
| Functional Alteration | Patient cells | PMID:39068203 | 1 | |||
| Functional Alteration | Non-patient cells | PMID:39068203 | 0.5 |
4 rows