Curation CCHS PHOX2B
Gene PHOX2B
Disease CCHS
Inheritance AD
Score
12 + 5 = 17 / 18
Genetic + experimental = total
Classification Definitive
0
18
Refuted
Moderate
Definitive
Last Updated 12/30/2022
Pubs Reviewed 6
Publication Span 11 years
Publication Interval 11 years
Curator(s) Hereditary Cancer GCEP
Description
Genetic evidence
Total: 12
No genetic evidence details available.
Experimental evidence
Total: 5
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.