HSAN-VIII_PRDM12
- Gene
- PRDM12
- Disease
- HSAN-VIII
- Inheritance
- AR
- Classification
- Moderate
- Total Score
- 11
- Publications Reviewed
- 1
- Publication Span
- Last Updated
- 8/14/25
- Curator(s)
- Macayla Weiner, Laurel Hiatt
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: 5
| Singular Evidence | Probands | PMID:26005867 | 2.5 | 2 families | pedigree for both and functional info for one family | |
| Collective Evidence | Computational | PMID:26005867 | 1 | |||
| Collective Evidence | Segregation | PMID:26005867 | 1.5 |
3 rows
Experimental evidence
Total: 6
| Function | Biochemical function | PMID:26005867 | 0.5 | |||
| Function | Protein interaction | PMID:26005867 | 0.5 | |||
| Function | Regulatory Impact | PMID:26005867 | 1 | |||
| Functional Alteration | Patient cells | PMID:26005867 | 1 | |||
| Functional Alteration | Non-patient cells | PMID:26005867 | 0.5 | |||
| Models | Non-human model organism | PMID:26005867 | 2 | |||
| Models | Cell culture | PMID:26005867 | 1 |
7 rows