# Incidental and secondary findings in trio exome sequencing

**Authors:** Camille Cohen, Emeline Bellanger, Jeremie Mortreux, Laure Raymond, François Vialard, Rodolphe Dard

PMC · DOI: 10.1016/j.gendis.2023.101137 · 2023-10-11

## Full-text entities

- **Genes:** ABCC6 (ATP binding cassette subfamily C member 6) [NCBI Gene 368] {aka ABC34, ARA, EST349056, GACI2, MLP1, MOAT-E}, TTN (titin) [NCBI Gene 7273] {aka CMD1G, CMH9, CMPD4, CMYO5, CMYP5, EOMFC}, MEFV (MEFV innate immunity regulator, pyrin) [NCBI Gene 4210] {aka FMF, MEF, PAAND, TRIM20}, GJB2 (gap junction protein beta 2) [NCBI Gene 2706] {aka BAPS, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A}, F11 (coagulation factor XI) [NCBI Gene 2160] {aka FXI, PTA}, NEB (nebulin) [NCBI Gene 4703] {aka AMC6, NEB177D, NEM2}, SMN1 (survival of motor neuron 1, telomeric) [NCBI Gene 6606] {aka BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3}, CYP21A2 (cytochrome P450 family 21 subfamily A member 2) [NCBI Gene 1589] {aka CA21H, CAH1, CPS1, CYP21, CYP21B, P450c21B}, CNGB3 (cyclic nucleotide gated channel subunit beta 3) [NCBI Gene 54714] {aka ACHM1}, SMN2 (survival of motor neuron 2, centromeric) [NCBI Gene 6607] {aka BCD541, C-BCD541, GEMIN1, SMNC, TDRD16B}, NCF1 (neutrophil cytosolic factor 1) [NCBI Gene 653361] {aka CGD1, NCF-1, NCF-47K, NCF1A, NOXO2, SH3PXD1A}
- **Diseases:** autosomal dominant diseases (MESH:D030342), hematologic (MESH:D006402), ES (MESH:D010855), malformation syndromes (MESH:C564254), benign (MESH:D009369), ACMG class 4 (MESH:D008311), incidentalomas (MESH:C538238), conditions (MESH:D020763), genetic anomaly (MESH:D020022), intellectual disabilities (MESH:D008607), benign diseases (MESH:D004194), neurodegenerative or neuromuscular disorders (MESH:D019636), oncologic (MESH:D000072716), ISFs (MESH:D009461), X-linked diseases (MESH:D040181), cardiovascular, nephrologic, or (MESH:D002318), ID (MESH:C537985), inborn errors of metabolism (MESH:D008661), P (MESH:D002972)
- **Chemicals:** P (MESH:D010758)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC10958690/full.md

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Source: https://tomesphere.com/paper/PMC10958690