GDPAG_GLS
- Gene
- GLS
- Disease
- GDPAG
- Inheritance
- AR
- Classification
- Definitive
- Total Score
- 11.5
- Publications Reviewed
- 5
- Publication Span
- 6 years
- Last Updated
- 07/09/2021
- Curator(s)
- Aminoacidopathy GCEP
Description
Curation included five unique variants (nonsense, frameshift, and missense) as well as a 5 prime UTR repeat expansion (normally occurring in 8 or 16 repeats) ranging from 680 to 1500 repeats. https://search.clinicalgenome.org/CCID:004965
Genetic evidence
Total: 9.5
No genetic evidence details available.
Experimental evidence
Total: 2
No experimental evidence details available.
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.