Table 1 Potential COVID-19-related medically actionable genetic conditions
From: Biobanks could identify medically actionable findings relevant for COVID-19 clinical care
Class of actionable condition | Genetic condition | Gene(s) |
|---|---|---|
Conditions associated with an increased susceptibility to medications commonly used in managing COVID-19 and respiratory failure | Long QT syndromes and catecholaminergic polymorphic VT | CASQ2, KCNE1, KCNH2a,b, KCNQ1a,b, RYR2a,b, SCN5Aa,b |
G6PD deficiency | G6PD | |
Malignant hyperthermia susceptibility | CACNA1Sa,b, RYR1a,b | |
Conditions that cause reversible metabolic or thrombotic crises that are often induced by severe illnesses | Urea cycle disorders | ASL, ASS1, CPS1, NAGS, OTCa,b, SLC25A13b, SLC25A15 |
Lysinuric protein intolerance | SLC7A7 | |
Fatty acid oxidation disorders | ACADM, ACADVLb, CPT2, ETFA, ETFB, ETFDH | |
Acute porphyrias | CPOX, HMBSb, PPOX | |
Adrenal insufficiency disorders | AAAS, ABCD1b, AIRE, LHX4, PCSK1, PROP1 | |
Hereditary thrombophilia | PROCb, PROS1b, SERPINC1 | |
Methylmalonic acidemia | MMACHCb, MMADHCb | |
Atypical hemolytic uremic syndrome | C3, CD46, CFB, CFH, CFI | |
Conditions that cause reversible cardiopulmonary complications that can be exacerbated during severe illnesses | Familial cardiomyopathies | ACTC1a,b, DSC2a,b, DSG2a,b, DSPa,b, LMNAa,b, MYBPC3a,b, MYH7a,b, MYL2a,b, MYL3a,b, PKP2a,b, PRKAG2a,b, TMEM43a,b, TNNI3a,b, TNNT2a,b, TPM1a,b, TTN |
Cystic fibrosis | CFTR | |
Refsum disease | PEX7, PHYH | |
Familial pulmonary hypertension | BMPR2b | |
Congenital myasthenic syndrome | CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, CHAT, GFPT1, MUSK, DOK7, RAPSN |