Table A1.
Genes selected for return to patients by our return of results committee divided by tier.
| Tier 1 | ||
| Familial hypercholesterolemia | APOB | |
| LDLR | ||
| PCSK9 | ||
| Hereditary breast and ovarian cancer | BRCA1 | |
| BRCA2 | ||
| Hereditary hemochromatosis | HFE | |
| Lynch Syndrome | MLH1 | |
| MSH2 | ||
| MSH6 | ||
| PMS2 | ||
| Tier 2A | ||
| Aortopathies | ACTA2 | |
| FBN1 | ||
| MYH11 | ||
| SMAD3 | ||
| TGFBR1 | ||
| TGFBR2 | ||
| Arrhythmogenic right ventricular cardiomyopathy | DSC2 | |
| DSG2 | ||
| DSP | ||
| PKP2 | ||
| TMEM43 | ||
| Biotinidase deficiency | BTD | |
| Cardiomyopathies | ACTC1 | |
| FLNC | ||
| LMNA | ||
| MYBPC3 | ||
| MYH7 | ||
| MYL2 | ||
| MYL3 | ||
| PRKAG2 | ||
| TNNI3 | ||
| TPM1 | ||
| TTN | ||
| Ehlers-Danlos syndrome, vascular type | COL3A1 | |
| Fabry’s disease | GLA | |
| Familial medullary thyroid cancer | RET | |
| Hereditary breast and ovarian cancer | PALB2 | |
| Inherited cardiac Arrhythmias | CASQ2 | |
| KCNH2 | ||
| KCNQ1 | ||
| RYR2 | ||
| SCN5A | ||
| TRDN | ||
| Hereditary colorectal cancer | APC | |
| BMPR1A | ||
| MUTYH | ||
| SMAD4 | ||
| Hereditary hemorrhagic telangiectasia | ACVRL1 | |
| ENG | ||
| Hereditary paraganglioma-pheochromocytoma syndrome | MAX | |
| SDHAF2 | ||
| SDHB | ||
| SDHC | ||
| SDHD | ||
| TMEM127 | ||
| Left ventricular noncompaction | TNNT2 | |
| Li-Fraumeni syndrome | TP53 | |
| Malignant hyperthermia | CACNA1S | |
| RYR1 | ||
| Maturity-onset of diabetes of the young | HNF1A | |
| Multiple endocrine neoplasia | MEN1 | |
| Neurofibromatosis, type 2 | NF2 | |
| Ornithine carbamoyltransferase deficiency | OTC | |
| Peutz-Jeghers syndrome | STK11 | |
| Pompe disease | GAA | |
| PTEN hamartoma tumor syndrome | PTEN | |
| Retinoblastoma | RB1 | |
| RPE65-related retinopathy | RPE65 | |
| Tuberous sclerosis complex | TSC1 | |
| TSC2 | ||
| Von Hippel-Lindau syndrome | VHL | |
| WT1-related Wilms tumor | WT1 | |
| Wilson disease | ATP7B | |
| Tier 2B | ||
| Aortopathies | MYLK | |
| LOX | ||
| PRKG1 | ||
| SMAD2 | ||
| TGFB2 | ||
| TGFB3 | ||
| Arrhythmogenic right ventricular cardiomyopathy | JUP | |
| PKP2 | ||
| BAP1 tumor predisposition syndrome | BAP1 | |
| Birt-Hogg-Dubé syndrome | FLCN | |
| Cardiomyopathies | ACTN2 | |
| BAG3 | ||
| CSRP3 | ||
| DES | ||
| DMD | ||
| LAMP2 | ||
| PLN | ||
| RBM20 | ||
| DICER1 tumor predisposition | DICER1 | |
| Familial hypercholesterolemia | LDLRAP1 | |
| Hereditary breast and ovarian cancer | ATM | |
| BRIP1 | ||
| CHEK2 | ||
| RAD51C | ||
| RAD51D | ||
| Hereditary colorectal cancer | POLE | |
| Hereditary diffuse gastric cancer | CDH1 | |
| Hereditary skin cancer | CDKN2A | |
| Hereditary transthyretin amyloidosis | TTR | |
| Heritable pulmonary arterial hypertension | BMPR2 | |
| TBX4 | ||
| Hypertrophic cardiomyopathy | TNNC1 | |
| Inherited cardiac arrhythmias | CALM1 | |
| CALM2 | ||
| CALM3 | ||
| KCNE1 | ||
| Lynch syndrome | EPCAM | |
| Metachromatic leukodystrophy | ARSA | |
| Neurofibromatosis, type 1 | NF1 | |
| Prostate cancer | HOXB13 | |
| Pulmonary venoocclusive disease | EIF2AK4 | |
| X-Linked adrenoleukodystrophy | ABCD1 | |
| Tier 3 | ||
| Aortopathies | COL5A2 | |
| EFEMP2 | ||
| FBN2 | ||
| FOXE3 | ||
| GATA1D | ||
| MAT2A | ||
| MFAP5 | ||
| NOTCH1 | ||
| PLOD1 | ||
| SKI | ||
| SLC2A10 | ||
| Bloom Syndrome | RECQL3 | |
| Capillary malformation-ateriovenous malformation | RASA1 | |
| Cardiac Arrhythmias | ANK2 | |
| CACNA1C | ||
| CACNB2 | ||
| GPD1L | ||
| HCN4 | ||
| KCNA5 | ||
| KCNE2 | ||
| KCNE3 | ||
| KCNJ2 | ||
| NKX2-5 | ||
| SCN1B | ||
| SCNB3 | ||
| SNTA1 | ||
| Cardiomyopathies | ABCC9 | |
| CAV3 | ||
| CRYAB | ||
| DOLK | ||
| EYA4 | ||
| FKRP | ||
| HRAS | ||
| RAF1 | ||
| SGCD | ||
| TAZ | ||
| TCAP | ||
| VCL | ||
| Carney complex | PRKAR1A | |
| Glycogen storage disease | AGL | |
| Hereditary Multiple Osteochondromas | EXT1 | |
| EXT2 | ||
| Hereditary colorectal cancer | AXIN2 | |
| GREM1 | ||
| MSH3 | ||
| NTHL1 | ||
| POLD1 | ||
| Hereditary paraganglioma-pheochromocytoma syndrome | SDHA | |
| Maturity-onset of diabetes of the young | ABCC8 | |
| HNF1B | ||
| HNF4A | ||
| KCNJ11 | ||
| Nijmegen breakage syndrome | NBN | |
| Nevoid basal cell carcinoma syndrome | PTCH1 | |
| SUFU | ||
| Parathyroid Cancer | CDC73 | |
| Pulmonary Arterial Hypertension | CAV1 | |
| SMAD9 | ||
| Rhabdoid tumor predisposition syndrome | SMARCA4 | |
| SMARCB1 | ||
| Rothmund-Thomson syndrome, type 2 | RECQL4 | |
| RUNX1 familial platelet disorder with associated myeloid malignancies | RUNX1 | |
| Skin Cancer | CYLD | |
| ERCC1 | ||
| ERCC2 | ||
| ERCC3 | ||
| ERCC4 | ||
| ERCC5 | ||
| MITF | ||
| Systemic Primary Carnitine Deficiency | SLC22A5 | |
| Thrombosis | CBS | |
| Werner Syndrome | WRN |