Table 2.
List of genes containing pathogenic TTTTA/TTTCA repeat expansions related to FAME.
| Chr. | Gene name | Intron | Genomic coordinates (hg38) | Normal allelesrepeat range | Pathogenic allelesrepeat range | Ref. |
| 2 | STARD7 | 1 | 96197067–96197121 | TTTA(TTTTA)9–20TTTT | (TTTTA/TTTCA)661–735 | [14] |
| 3 | YEATS2 | 1 | 183712192–183712226 | TTTTATGTTC(TTTTA)7TTTTTT | (TTTTA/TTTCA)exp | [27] |
| 4 | RAPGEF2 | 14/20* | 159342529–159342618 | (TTTTA)5(TATTA)(TTTTA)12–14 | (TTTTA/TTTCA)exp | [23] |
| 5 | MARCHF6 | 1 | 10356339–10356411 | TTTTTTATTTA(TTTTA)10–30TTTT | (TTTTA/TTTCA)660–2,800 | [7] |
| 8 | SAMD12 | 4/3′UTR* | 118366813–118366915 | (TTTTA)7(TTA)(TTTTA)13–exp | (TTTTA/TTTCA)440–3,680 | [23] |
| 16 | TNRC6A | 1 | 24703039–24703078 | (TTTTA)8 | (TTTTA/TTTCA)exp | [23] |
Chr.: chromosome; Ref.: reference; *: location varies depending on the isoform