PHEX Gene Curation
- Andrea Oza
Analytics
Gene-disease assertions not curated here (add link or write note): Curating for molecular mechanism only.
Disease | X-linked hypophosphatemia |
|---|---|
Inheritance | X-linked |
Prevalence |
Source: |
Rapid or full curation? | Rapid Full |
Clingen Dosage - curated as 3 (Sufficient evidence for haploinsufficiency). Report states LOF is mechanism, but no citations. Clinical Actionability - pending assertion. GenCC - Definitive by Illumina and Strong by Invitae. No need to curate clinical validity. | |
Clinical Validity Scoring Notes and points |
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Clinical Validity Points Total |
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Clinical Validity Classification Definitive (12pts) Strong (12pts) Moderate (7-11pts) Limited (0.1-6pts) No genetic evidence Refuted Disputed |
Strong/Definitive |
Molecular Mechanism Loss of function Gain of function Dominant negative Unknown Other | Loss of function PMID: 9077527, 9106524, 9097956 Animal model - Hyp mouse displays the hypophosphatemia phenotype and has been reported to have a large deletion in the 3' region of PHEX (PMID: 9077527). PMID: 9106524
PMID: 9097956
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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) |
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Severity |
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Clinical Features |
Sources: |
HPO Terms |
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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 |
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Case ID, Curator name, Date, Jira ticket link | Andrea Oza 10.01.24 SDSM-2UV SDOR-J2 PDO-37768 56752305182588 |