Curation GDPAG GLS

GeneGLS
DiseaseGDPAG
InheritanceAR
Score

9.5 + 2 = 11.5 / 18

Genetic + experimental = total

Classification
0
18
Refuted
Moderate
Definitive
Last Updated07/09/2021
Pubs Reviewed5
Publication Span6 years
Publication Interval6 years
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

All criTRia Curations Locus Page

Genetic evidence

Total:9.5

No genetic evidence details available.

Experimental evidence

Total:2

No experimental evidence details available.

Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.