Table 2.
Ichthyosis cohorts with clinical NGS testing.
| # of patients | Yield | Platform | Panel size (genes) | Region | Reference |
|---|---|---|---|---|---|
| 1,000 | 87% | Targeted & WES | 52 AAGAB, ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AQP5, ATP2A2, ATP2C1, CARD14, CDSN, CERS3, CLDN1, CSTA, CYP4F22, DKC1, DSC2, DSG1, DSP, EBP, EDA, FLG, GJA1, GJB2, GJB3, GJB4, GJB6, KANK2, KRT1, KRT10, KRT16, KRT17, KRT2, KRT6C, KRT9, LOR, MBTPS2, NIPAL4, NSDHL, PNPLA1, POGLUT1, RHBDF2, RSPO1, SERPINB7, SLC27A4, SLURP1, SNAP29, SPINK5, SREBF1, STS, TGM1, TRPV3 |
USA, Latin Am | (30) |
| 64 | 83% | Targeted | 37 ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, C7ORF11, CLDN1, CYP4F22, EBP, ERCC2, ERCC3, GBA, GJB2, GJB3, GJB4, GTF2H5, KRT1, KRT10, KRT2, LIPN, LOR, MBTPS2, NIPAL4, NSDHL, PEX7, PHYH, PNPLA1, POMP, SLC27A4, SNAP29, SPINK5, ST14, STS, SUMF1, TGM1, VPS33B |
Italy | (33) |
| 45 | 79% | WES | 40* ABCA12, ABHD5, ALOX12B, ALOXE3, AP1S1, CDSN, CERS3, CLDN1, CSTA, CYP4F22, DSG1, EBP, ELOVL4, ERCC2, ERCC3, FLG, GJB2, GJB3, GJB4, GJB6, GTF2H5, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, MBTPS2, NIPAL4, PNPLA1, POMP, SLC27A4, SLURP1, SNAP29, SPINK5, ST14, STS, TGM1, TGM5, TRPV3 |
Norway | (34) |
| 35 | 91% | Targeted | 541 Includes following genes: AAGAB, ABCA12, ABHD5, ALOX12B, ALOXE3, AP1S1, AQP5, ATP2A2, CDSN, CERS3, CLDN1, CSTA, CTSC, CYP4F22, DSG1, DSP, EBP, ELOVL4, ERCC2, ERCC3, FLG, GJB2, GJB3, GJB4, GJB6, GTF2H5, JUP, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT9, LIPN, LOR, MBTPS2, NIPAL4, PKP1, PNPLA1, POMP, PTEN, RHBDF2, SDR9C7, SERPINB7, SLC27A4, SLURP1, SNAP29, SPINK5, ST14, STS, SULT2B1, TGM1, TGM5, TRPV, TRPV3, WNT10A |
China | (35) |
| 14 | 71% | Targeted | 24 ABCA12, ABHD5, AP1S1, ALOXE3, ALOX12B, CDSN, CSTA, CYP4F22, DSG1, DSP, GJB2, GJB3, GJB4, KRT1, KRT2, LOR, NIPAL4, POMP, SLC27A4, SLURP1, SPINK5, STS, TGM1, TGM5 |
United Kingdom | (36) |
| 146 (ARCI) | 83% | Targeted | 38 ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CERS3, CLDN1, CYP4F22, EBP, ELOVL4, GJB2, GJB3, GJB4, GJB6, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, NIPAL4, PEX7, PHYH, PNPLA1, PNPLA2, POMP, SLC27A4, SNAP29, SPINK5, ST14, STS, TGM1, TGM5, VPS33B, ZMPSTE24 |
United Kingdom | (37) |
| 132 (ARCI) | 85% | Targeted | 79 Includes: ABCA12, ABHD5, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SLC27A4, TGM1 |
Denmark, Sweden | (38) |
| 125 (ARCI) | 79% | Targeted | 38 ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CERS3, CLDN1, CYP4F22, EBP, ELOVL4, GJB2, GJB3, GJB4, GJB6, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, NIPAL4, PEX7, PHYH, PNPLA1, PNPLA2, POMP, SLC27A4, SNAP29, SPINK5, ST14, STS, TGM1, TGM5, VPS33B, ZMPSTE24 |
Iran | (39) |
| 34 (ARCI) | 91% | Targeted | 81 ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AQP5, ATP2A2, BMP1, CALCR, CERS3, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL7A1, COL17A1, CRTAP, CTSC, CYP4F22, DSG1, DSP, DST, EDA, EDAR, EDARADD, EDN3, EDNRB, EXPH5, FBN1, FERMT1, FKBP10, GJB2, IKBKG, ITGA3, ITGA6, ITGB4, JUP, KRT1, KRT2, KRT5, KRT6A, KRT6B, KRT6C, KRT9, KRT10, KRT14, LAMA3, LAMB3, LAMC2, LEMD3, LEPRE1, LIPN, LOR, LRP5, MITF, NIPAL4, OCA2, PAX3, PDLIM4, PKP1, PLEC, PLOD1, PLOD2, PLS3, PNPLA1, PPIB, SERPINF1, SLC45A2, SNAI2, SOX10, SPINK5, STS, TGM1, TGM5, TNXB, TP63, TYR, TYRP1, VDR, WNT1 |
Czech Republic | (40) |
| 28 (ARCI) | 79% | Targeted | 13 ABCA12, ALOX12B, ALOXE3, CASP14, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7, SLC27A4, SULT2B1, TGM1 |
India | (41) |
*Only 40 ichthyosis-related genes were analyzed for variants of the WES data. ARCI, Autosomal recessive congenital ichthyosis.