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

  1. aACMG59 actionable gene. bClinical Genome Resource actionable gene.