Curation SBMA AR

Gene AR
Disease SBMA
Inheritance AR
Score

7.5 + 6 = 13.5 / 18

Genetic + experimental = total
Classification
0
18
Refuted
Moderate
Definitive
Last Updated 08/08/2023
Pubs Reviewed 11
Publication Span 32 years
Publication Interval 32 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.