Curation CCHS PHOX2B
GenePHOX2B
DiseaseCCHS
InheritanceAD
Score
12 + 5 = 17 / 18
Genetic + experimental = total
ClassificationDefinitive
0
18
Refuted
Moderate
Definitive
Last Updated12/30/2022
Pubs Reviewed6
Publication Span11 years
Publication Interval11 years
Curator(s)Hereditary Cancer GCEP
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.