Table 1.
Detailed list of 244 genes and variants of interest
| Groups of genes | Genes | |
|---|---|---|
| 132 actionable genes leading to predisposition to a later-onset disease | 59 genes recommended for return by the ACMG guidelines |
Autosomal dominant inheritance: ACTA2a, ACTC1, APC, BRCA1, BRCA2, BMPR1A CACNA1S, COL3A1, DSC2, DSG2, DSP, FBN1, KCNH2, KCNQ1, LMNA, MEN1, MLH1, MSH2, MSH6, MYBPC3, MYH11, MYH7, MYL2, MYL3, NF2, PCSK9, PKP2, PMS2, PRKAG2, PTEN, RB1, RET, RYR1, RYR2, SCN5A, SDHAF2, SDHB, SDHC, SDHD, SMAD3, SMAD4, STK11, TGFBR1, TGFBR2, TMEM43, TNNI3, TNNT2, TP53, TPM1, TSC1, TSC2, VHL, WT1 Semidominant inheritance: LDLR, APOB Autosomal recessive inheritance: ATP7B, MUTYH X-linked recessive inheritance: GLA, OTCa |
| 69 additional genes associated with medically actionable genetic conditions that might remain undiagnosed in adults (Green et al. [12]; Dorschner et al. [17]; Amendola et al. [18]; Dewey et al. [19]; the 100.000 Genomes Project Protocol v3 [20]) |
Autosomal dominant inheritance: ACVRL1, CACNA1C, CACNB2, CAV3, CDC73, CDH1, CNBP, DES, DMPK, ENG, EPCAM, FH, FLCN, GCH1, GPD1L, HCN4, HMBS, KCNE1, JUP, KCNE2, KCNE3, KCNJ2, KIT, MAX, MET, MLH3, MYLK, NTRK1, PDGFRA, PLN, PRKAR1A, PROC, PROS1, PTCH1, RBM20, SCN1B, SCN3B, SERPINC1, SGCD, SMARCB1, SCN4B, SNTA1, TGFB2, TGFB3, TMEM127 Autosomal recessive inheritance: BCHE, BLM, CASQ2, CHL, COQ2, COQ9, CPT2, F5b-rs6025/F5b, GAA, HAMP, HFE-rs1800562:G>Aa, HFE2, IDUA, LDLRAP1, PAH, PCBD1, PTS, QDPR, SERPINA1, SLC25A13, SLC37A4, SLC7A9 X-linked recessive inheritance: DMD, EMD |
|
| 4 additional genes predisposing to coagulation disorders | F2 (rs1799963:G>A), F8, F9, VWF | |
| 113 genes for genetic counselling | 3 genes with frequent heterozygous status in France (CFTR, SMN1, CYP21A2) |
CFTR variants: rs199826652, rs113993960, rs113993959:G>T, rs80034486:C>G, rs76713772:G>A, rs80224560:G>A, rs74597325:C>T, rs75527207:G>A, rs79660178:T>A, rs75096551:G>A, rs77188391:G>T, rs121908745, rs76151804:A>G, rs77932196:G>C, rs74767530:C>T, rs77010898:G>A, rs121908761:C>A, rs121908799, rs121908747, rs397508266:A>G, rs75961395:G>A, rs74503330:G>A, rs121909011:C>T, rs78655421:G>A, rs397508393:G>A, rs267606722:G>A, rs78756941:G>T, rs121908744, rs74551128:C>A, rs77284892:G>T, rs121908769, rs75039782:C>T, SMN1 deletion CYP21A2 |
| 110 genes implicated in X-linked intellectual deficiency | ACSL4, AFF2, ALG13, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, ATXN3L, BCOR, BRWD3, CACNA1F, CASK, CCDC22, CDK6, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DDX3 × , DKC1, DLG3, DP71, EIF2S3, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HCFC1, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IKBKG, IL1RAPL1, IQSEC2, KDM5C, KIAA2022, KLF8, KLHL15, L1CAM, LAMP2, LAS1L, MAOA, MBTPS2, MECP2, MED12, MID1, MSL3, NAA10, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, OCRL, OFD1, OPHN1, OTCa, PAK3, PCDH19, PDHA1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RBM10, RLIM, RPS6KA3, SHROOM4, SLC16A2, SLC35A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SYN1, SYP, TAF1, TIMM8A, TMLHE, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, WDR45, ZDHHC15, ZDHHC9, ZMYM3, ZNF711, ZNF81 | |
aCommonly present in actionable genes leading to predisposition to a later-onset disease and in the genes for genetic counselling