IN PROGRESS PHOX2B Gene Curation

Gene-disease assertions not curated here (add link or write note): ***ONLY CURATED FOR NORMAL RANGE FOR VALIDATION

Disease	Congenital central hypoventilation syndrome

Disease	Congenital central hypoventilation syndrome
Inheritance	Autosomal dominant
Prevalence Orphanet Medline Plus Genetics	Source:
Rapid or full curation?	Rapid Full
ClinGen / GenCC / BabySeq / HGMD / OMIM
Clinical Validity Scoring Notes and points	Variant/Case Evidence: Segregation Evidence: Case/Control Evidence: Experimental Evidence: Source:
Clinical Validity Points Total	Source:
Clinical Validity Classification Definitive (12pts) Strong (12pts) Moderate (7-11pts) Limited (0.1-6pts) No genetic evidence Refuted Disputed	Source:
Molecular Mechanism Loss of function Gain of function Dominant negative Unknown Other	Loss of function / Gain of function / Dominant Negative Tandem repeat expansion - GCN (polyalanine) in exon 3. Normal max: 20 Review GeneReviews PMID: 20301600 - normal 20; Uncertain 21-23. Full penetrance 24 or more. STRchive: Normal max 20 Stripy: normal 20, pathogenic ≥24 Depienne 2021 PMID: 33811808 : Normal 20, path 25-29
Penetrance Complete (100%) High (≥80%) Moderate (<80% and >20%) Low (≤20%) (list source/PMID)	Source:
Age of Onset Congenital Pediatric Adolescent Adulthood Late adulthood (list source/PMID)
Severity
Clinical Features	Sources:
HPO Terms https://hpo.jax.org/app/
Gene SOPs & Notes	LINK if SOP is a long document. Short notes if it is easy to digest. eg. Last known truncating variant
Curation Summary
Case ID, Curator name, Date, Jira ticket link

Broad Clinical Lab Reporting and Interpretation Team