Table 2 Overview of the genetic data in our patients (full cohort).
Family code | Patient ID | Consanguinity | Gender | Genetic tests performed | Gene (causative variant in known SCD genes) | Gene (VUS or CN) |
|---|---|---|---|---|---|---|
F5 | 53 | yes | M | WES, array genotyping | none | none |
F5 | 56 | yes | M | Array genotyping | none | none |
F5 | 61 | yes | M | WES, array genotyping | none | none |
F7 | 85 | yes | M | WES, Sanger seq. validation | none | CN gene |
F7 | 86 | yes | F | WES, Sanger seq. Validation | none | CN gene |
F8 | 98 | yes | F | WES, Sanger seq. validation | SIL1 | none |
F8 | 99 | yes | F | WES, Sanger seq. validation | SIL1 | none |
F27 | 227 | no | M | WES, Sanger seq. validation | ERCC8 | none |
F27 | 228 | no | F | WES, Sanger seq. validation | ERCC8 | none |
F27 | 229 | no | F | WES, Sanger seq. validation | ERCC8 | none |
F31 | 267 | yes | F | WES, Sanger seq. validation | VLDLR | none |
F31 | 268 | yes | F | WES, Sanger seq. validation | VLDLR | none |
F38 | 318 | yes | M | WES; FRDA screening | FRDA expansion | none |
F38 | 317 | yes | M | Sanger seq. validation | FRDA not tested | none |
F38 | 319 | yes | F | Sanger seq. validation | FRDA not tested | none |
F38 | 328 | yes | M | not sampled | not sampled | not sampled |
F38 | 329 | yes | F | WES | FRDA not tested | none |
F41 | 351 | yes | F | WES, array genotyping, Sanger seq. validation | NF1 | none |
F41 | 349 | yes | M | WES, array genotyping, Sanger seq. validation | no segreg of NF1 | none |
F46 | 380 | yes | M | WES | none | none |
F46 | 383 | yes | F | Not sampled | Not sampled | Not sampled |
F49 | 396 | no | M | SCA expansion screening | SCA3 | none |
F49 | 398 | no | M | SCA expansion screening | SCA3 | none |
FM2 | 2016 | yes | F | WES, Sanger seq. validation | none | CN gene |
FM2 | 2008 | yes | M | Sanger seq. validation | none | no segreg of CN gene |
FM2 | 2013 | yes | F | WES, Sanger seq. validation | none | CN gene |
FM3 | 2020 | yes | M | WES, microsatelittes genotyping, Sanger seq. validation | PRUNE1 | none |
FM3 | 2021 | yes | F | Microsatelittes genotyping, Sanger seq. validation | PRUNE1 | none |
FM3 | 2022 | yes | F | WES, microsatelittes genotyping, Sanger seq. validation | PRUNE1 | none |
FM6 | 2042 | yes | F | Sanger seq. validation | DARS2 | none |
FM6 | 2043 | yes | F | WES, Sanger seq. validation | DARS2 | none |
FM6 | 2044 | yes | F | Sanger seq. validation | DARS2 | none |
F53 | 417 | no | M | Sanger seq. validation | SPG11 | none |
F53 | 418 | no | M | Sanger seq. validation | SPG11 | none |
F53 | 419 | no | M | HSP panel screening, Sanger seq. validation | SPG11 | none |
F54 | 427 | yes | M | HSP panel, WES, array genotyping, Sanger seq. validation | AP5Z1 | none |
F54 | 426 | yes | F | WES, array genotyping, Sanger seq. validation | no segreg of AP5Z1 | none |
F57 | 439 | yes | F | Sanger seq. validation | SACS | none |
F57 | 440 | yes | M | Sanger seq. validation | SACS | none |
F57 | 441 | yes | F | HSP panel, Sanger seq. validation | SACS | none |
F59 | 451 | yes | F | Sanger seq. validation | NT5C2 | none |
F59 | 452 | yes | M | HSP panel, Sanger seq. validation | NT5C2 | none |
F59 | 453 | yes | M | Sanger seq. validation | NT5C2 | none |
F61 | 465 | yes | M | HSP panel, Sanger seq. validation | FA2H | none |
F61 | 467 | yes | F | Sanger seq. validation | FA2H | none |
F62 | 470 | yes | M | WES, Sanger seq. validation | ERCC6 | none |
F62 | 471 | yes | M | HSP panel, WES, Sanger seq. validation | ERCC6 | none |
F63 | 476 | yes | F | HSP panel, WES, Sanger seq. validation | ADAT3A | none |
F63 | 477 | yes | F | WES, Sanger seq. validation | ADAT3A | none |
F65 | 484 | yes | M | Array genotyping, Sanger seq. validation | none | CN gene |
F65 | 485 | yes | M | SCA expansion screening, WES, array genotyping, Sanger seq. validation | none | CN gene |
F65 | 486 | yes | M | HSP panel, SCA expansion screening, WES, array genotyping, Sanger seq. validation | none | CN gene |
F65 | 487 | yes | F | Array genotyping, Sanger seq. validation | none | CN gene |
F66 | 490 | yes | M | HSP panel, WES, Sanger seq. validation | none | DMXL2 |
F66 | 493 | yes | M | HSP panel, WES, Sanger seq. validation | none | DMXL2 |
F67 | 496 | yes | F | WES, Sanger seq. validation | none | MFSD8 |
F68 | 503 | yes | F | HSP panel, WES, Sanger seq. validation | FA2H | none |
F68 | 504 | yes | F | HSP panel, WES, Sanger seq. validation | FA2H | none |
F69 | 508 | yes | F | HSP panel, WES, Sanger seq. validation | none | CN gene (ABHD16A) |
F69 | 509 | yes | M | HSP panel, WES, Sanger seq. validation | none | CN gene (ABHD16A) |
F70 | 513 | yes | F | WES, array genotyping, Sanger seq. validation | POLR3A | none |
F70 | 514 | yes | M | HSP panel, WES, Sanger seq. Validation, array genotyping | no segreg of POLR3A | none |
F73 | 527 | yes | M | HSP panel, WES, Sanger seq. Validation, array genotyping | none | CN gene |
F73 | 525 | yes | F | HSP panel, WES, Sanger seq. Validation, array genotyping | none | no segreg of CN gene |
F74 | 529 | yes | M | Array genotyping, Sanger seq. validation | none | none |
F74 | 530 | yes | M | HSP panel, WES, Sanger seq. Validation, array genotyping | none | none |
F74 | 531 | yes | M | HSP panel, WES, Sanger seq. Validation, array genotyping | none | none |
F74 | 532 | yes | M | Array genotyping, Sanger seq. validation | none | none |
F74 | 533 | yes | M | Array genotyping, Sanger seq. validation | none | none |
F74 | 535 | yes | M | Array genotyping, Sanger seq. validation | none | none |
F74 | 536 | yes | M | Array genotyping, Sanger seq. validation | none | none |
F75 | 542 | yes | F | HSP panel, WES, Sanger seq. Validation, array genotyping | none | CN gene |
F75 | 543 | yes | M | HSP panel, WES, Sanger seq. Validation, array genotyping | none | CN gene |
F76 | 547 | yes | F | HSP panel, Sanger seq. validation | DDHD2 | none |
F76 | 548 | yes | M | HSP panel, Sanger seq. validation | DDHD2 | none |
F77 | 550 | yes | F | HSP panel, WES, Sanger seq. validation | none | CN gene |
F77 | 551 | yes | M | HSP panel, WES, Sanger seq. validation | none | CN gene |
F78 | 557 | yes | M | HSP panel, Sanger seq. validation | ZFYVE26 | none |
F78 | AA | yes | F | Sanger seq. validation | ZFYVE26 | none |
F79 | 568 | yes | M | WES, Sanger seq. validation | none | HERC2/ATP2B3 |
F80 | 573 | yes | F | WES, array genotyping, Sanger seq. validation | NT5C2 | none |
F80 | 572 | yes | F | WES, array genotyping, Sanger seq. validation | no segreg of NT5C2 | none |
F81 | 576 | yes | M | WES, array genotyping, Sanger seq. validation | CCDC82 | none |
F81 | 577 | yes | F | WES, array genotyping, Sanger seq. validation | CCDC82 | none |
F82 | 580 | yes | M | WES, Sanger seq. validation | HUWE1 | none |
F83 | 581 | distant | F | WES, Sanger seq. validation | CCDC88C | none |
F84 | 588 | yes | M | WES, Sanger seq. validation | MCOLN1 | none |
F84 | 589 | yes | F | WES, Sanger seq. validation | MCOLN1 | none |
F85 | 2056 | yes | M | WES, array genotyping, Sanger seq. validation | none | PTPRQ homozygous |
F85 | 2059 | yes | F | Array genotyping, Sanger seq. validation | none | PTPRQ heterozygous |
