Curation SBMA AR

GeneAR
DiseaseSBMA
InheritanceAR
Score

7.5 + 6 = 13.5 / 18

Genetic + experimental = total

Classification
0
18
Refuted
Moderate
Definitive
Last Updated08/08/2023
Pubs Reviewed11
Publication Span32 years
Publication Interval32 years
Curator(s)Amyotrophic Lateral Sclerosis Spectrum Disorders GCEP
Description

Curated as Kennedy disease (MONDO:0010735) and Spinal and bulbar muscular atrophy, X-linked 1 (MIM:313200) was an included phenotype https://search.clinicalgenome.org/CCID:004161

All criTRia Curations Locus Page

Genetic evidence

Total:7.5

No genetic evidence details available.

Experimental evidence

Total:6

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.