ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Rule-Out Dashboard Adult or Pediatric Secondary Findings Permalink Current Version P Summary Report - Pediatric Release History - Pediatric Status (Pediatric): Passed
CONTEXT:
Pediatric
DISORDER:
Prelingual non-syndromic hearing loss and deafness
GENE/GENE PANEL:
CIB2,
CABP2,
CDH23,
CLDN14,
ESPN,
ESRRB,
GIPC3,
GJB2,
GRXCR1,
ILDR1,
LHFPL5,
LRTOMT,
MARVELD2,
MYO15A,
MYO3A,
MYO6,
OTOA,
OTOG,
OTOGL,
PDZD7,
POU3F4,
PTPRQ,
RDX,
S1PR2,
STRC,
TECTA,
TMC1,
TMIE,
TPRN,
TRIOBP,
PJVK
GENE⇔DISEASE PAIRS:
CIB2⇔609439
CABP2⇔614899
CDH23⇔601386
CLDN14⇔614035
ESPN⇔609006
ESRRB⇔608565
GIPC3⇔601869
GJB2⇔220290
GRXCR1⇔613285
ILDR1⇔609646
LHFPL5⇔610265
LRTOMT⇔611451
MARVELD2⇔610153
MYO15A⇔600316
MYO3A⇔607101
MYO6⇔606346
OTOA⇔607039
OTOG⇔614945
OTOGL⇔614944
PDZD7⇔618003
POU3F4⇔304400
PTPRQ⇔613391
RDX⇔611022
S1PR2⇔610419
STRC⇔603720
TECTA⇔601543
TECTA⇔603629
TMC1⇔600974
TMIE⇔600971
TPRN⇔613307
TRIOBP⇔609823
PJVK⇔610220
ACTIONABILITY
1. Is there a qualifying resource, such as a practice guideline or systematic review, for the genetic condition?
YES
NO
2. Does the practice guideline or systematic review indicate that the result is actionable in one or more of the following ways?
Yes
No
Patient management
Surveillance or Screening
Circumstances to Avoid
YES (≥ 1 of above)
NO
3. Is it actionable in an undiagnosed adult with the condition?
YES
NO
4. Is there an intervention that is initiated during childhood (<18 years of age) in an undiagnosed child with the genetic condition?
YES
NO
5. Does the disease present outside of the neonatal period?
YES
NO
SIGNIFICANCE/BURDEN OF DISEASE
6. Is this condition an important health problem?
YES
NO
PENETRANCE
7. Is there at least on known pathogenic variant with at least moderate penetrance (≥40%) or moderate relative risk (≥2) in any population?
YES
NO
UNKNOWN
NEXT STEPS
8. ADULT - Are Actionability (Q1-3) and Significance (Q6) "YES", and Penetrance (Q7) "YES" or "UNKNOWN"?
YES (Proceed to Summary Report for AAWG)
NO (Consult AAWG)
Exception granted, proceed to Summary Report
Exception not granted, STOP
9. PEDIATRIC - Are Actionability (Q1, Q2, Q4, Q5) and Significance (Q6) "YES", and Penetrance (Q7) "YES" or "UNKNOWN"?
YES (Proceed to Summary Report for PAWG)
NO (Consult PAWG)
Exception granted, proceed to Summary Report
Exception not granted, STOP