Belgian Genetic Tests database
Ichthyosis and erythroderma (95 genes) - KUL
| Full name: |
Ichthyosis and erythroderma (95 genes) - KUL
|
| Description: |
https://firebasestorage.googleapis.com/v0/b/uz-laboboeken.appspot.com/o/GHB_CME%2Fgeno-dermatosen-NGS-specifieke%20genpanels%20(transcripten).pdf?alt=media&token=4ce21463-cf35-4d79-8bb2-c4b58310b259
|
| Version number: |
v10_082021
|
| Laboratory: | |
| Responsible personnel member: | |
| Created: |
02 Jul 2019 - 12:43
|
| Changed: |
21 Sep 2022 - 14:26
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ABCA12 | 95.00 | 0 | NM_173076.2/ interpretable range CS1>95% |
| ABHD5 | 95.00 | 0 | NM_016006.4/ interpretable range CS1>95% |
| ADAM17 | 95.00 | 0 | NM_003183.4/ interpretable range CS1>95% |
| ALDH3A2 | 95.00 | 0 | NM_000382.2/ interpretable range CS1>95% |
| ALOX12B | 95.00 | 0 | NM_001139.2/ interpretable range CS1>95% |
| ALOXE3 | 95.00 | 0 | NM_021628.2/ interpretable range CS1>95% |
| AP1B1 | 95.00 | 0 | NM_001127.3/ interpretable range CS1>95% |
| AP1S1 | 95.00 | 0 | NM_001283.3/ interpretable range CS1>95% |
| ASPRV1 | 95.00 | 0 | NM_152792.2/ interpretable range CS1>95% |
| ASS1 | 95.00 | 0 | NM_000050.4/ interpretable range CS1>95% |
| ATP7A | 95.00 | 0 | NM_000052.6/ interpretable range CS1>95% |
| BCKDHA | 95.00 | 0 | NM_000709.3/ interpretable range CS1>95% |
| BCKDHB | 95.00 | 0 | NM_183050.2/ interpretable range CS1>95% |
| BTD | 95.00 | 0 | NM_000060.3/ interpretable range CS1>95% |
| BTK | 95.00 | 0 | NM_000061.2/ interpretable range CS1>95% |
| CAPN12 | 95.00 | 0 | NM_144691.3/ interpretable range CS1>95% |
| CARD14 | 95.00 | 0 | NM_024110.4/ interpretable range CS1>95% |
| CASP14 | 95.00 | 0 | NM_012114.2/ interpretable range CS1>95% |
| CAST | 95.00 | 0 | NM_001042440.4/ interpretable range CS1>95% |
| CDSN | 95.00 | 0 | NM_001264.4/ interpretable range CS1>95% |
| CERS3 | 95.00 | 0 | NM_178842.3/ interpretable range CS1>95% |
| CHST8 | 95.00 | 0 | NM_001127896.1/ interpretable range CS1>95% |
| CLDN1 | 95.00 | 0 | NM_021101.4/ interpretable range CS1>95% |
| CSTA | 95.00 | 0 | NM_005213.3/ interpretable range CS1>95% |
| CTSB | 95.00 | 0 | NM_001908.4/ interpretable range CS1>95% |
| CYP21A2 | 95.00 | 0 | NM_001875.4/ interpretable range CS1>95% |
| CYP4F22 | 95.00 | 0 | NM_173483.3/ interpretable range CS1>95% |
| DBT | 95.00 | 0 | NM_001918.3/ interpretable range CS1>95% |
| DCLRE1C | 95.00 | 0 | NM_001033855.2/ interpretable range CS1>95% |
| DLD | 95.00 | 0 | NM_000108.4/ interpretable range CS1>95% |
| DSG1 | 95.00 | 0 | NM_001942.2/ interpretable range CS1>95% |
| ELOVL1 | 95.00 | 0 | NM_001256399.1/ interpretable range CS1>95% |
| ELOVL4 | 95.00 | 0 | NM_022726.3/ interpretable range CS1>95% |
| ERCC2 | 95.00 | 0 | NM_000400.3/ interpretable range CS1>95% |
| ERCC3 | 95.00 | 0 | NM_000122.1/ interpretable range CS1>95% |
| FGFR1 | 95.00 | 0 | NM_002016.1/ interpretable range CS1>95% |
| FLG2 | 95.00 | 0 | NM_001014342.2/ interpretable range CS1>95% |
| GBA | 95.00 | 0 | NM_001005741.2/ interpretable range CS1>95% |
| GJA1 | 95.00 | 0 | NM_000165.4/ interpretable range CS1>95% |
| GJB2 | 95.00 | 0 | NM_004004.5/ interpretable range CS1>95% |
| GJB3 | 95.00 | 0 | NM_024009.2/ interpretable range CS1>95% |
| GJB4 | 95.00 | 0 | NM_153212.2/ interpretable range CS1>95% |
| GJB6 | 95.00 | 0 | NM_006783.4/ interpretable range CS1>95% |
| GLB1 | 95.00 | 0 | NM_006579.2/ interpretable range CS1>95% |
| GTF2E2 | 95.00 | 0 | NM_002095.4/ interpretable range CS1>95% |
| GTF2H5 | 95.00 | 0 | NM_207118.2/ interpretable range CS1>95% |
| HLCS | 95.00 | 0 | NM_000411.6/ interpretable range CS1>95% |
| IL36RN | 95.00 | 0 | NM_012275.2/ interpretable range CS1>95% |
| KDSR | 95.00 | 0 | NM_002035.2/ interpretable range CS1>95% |
| KIT | 95.00 | 0 | NM_000222.2/ interpretable range CS1>95% |
| KRT1 | 95.00 | 0 | NM_006121.3/ interpretable range CS1>95% |
| KRT10 | 95.00 | 0 | NM_000421.3/ interpretable range CS1>95% |
| KRT14 | 95.00 | 0 | NM_000526.4/ interpretable range CS1>95% |
| KRT16 | 95.00 | 0 | NM_005557.3/ interpretable range CS1>95% |
| KRT2 | 95.00 | 0 | NM_000423.2/ interpretable range CS1>95% |
| KRT5 | 95.00 | 0 | NM_000424.3/ interpretable range CS1>95% |
| KRT6C | 95.00 | 0 | NM_173086.4/ interpretable range CS1>95% |
| KRT83 | 95.00 | 0 | NM_002282.3/ interpretable range CS1>95% |
| KRT9 | 95.00 | 0 | NM_000226.3/ interpretable range CS1>95% |
| LIPN | 95.00 | 0 | NM_001102469.1/ interpretable range CS1>95% |
| LORICRIN | 95.00 | 0 | NM_000427.2/ interpretable range CS1>95% |
| MBTPS2 | 95.00 | 0 | NM_015884.3/ interpretable range CS1>95% |
| MMUT | 95.00 | 0 | NM_000255.3/ interpretable range CS1>95% |
| MPLKIP | 95.00 | 0 | NM_138701.3/ interpretable range CS1>95% |
| NIPAL4 | 95.00 | 0 | NM_001099287.1/ interpretable range CS1>95% |
| NSDHL | 95.00 | 0 | NM_015922.2/ interpretable range CS1>95% |
| NT5C3A | 95.00 | 0 | NM_015932.5/ interpretable range CS1>95% |
| PCCA | 95.00 | 0 | NM_000282.3/ interpretable range CS1>95% |
| PCCB | 95.00 | 0 | NM_000532.4/ interpretable range CS1>95% |
| PEX7 | 95.00 | 0 | NM_000288.3/ interpretable range CS1>95% |
| PHYH | 95.00 | 0 | NM_006214.3/ interpretable range CS1>95% |
| PIGL | 95.00 | 0 | NM_004278.4/ interpretable range CS1>95% |
| PNPLA1 | 95.00 | 0 | NM_001145717.1/ interpretable range CS1>95% |
| RAG1 | 95.00 | 0 | NM_000448.2/ interpretable range CS1>95% |
| RAG2 | 95.00 | 0 | NM_000536.3/ interpretable range CS1>95% |
| RNF113A | 95.00 | 0 | NM_006978.2/ interpretable range CS1>95% |
| SDR9C7 | 95.00 | 0 | NM_148897.2/ interpretable range CS1>95% |
| SERPINB8 | 95.00 | 0 | NM_198833.1/ interpretable range CS1>95% |
| SGPL1 | 95.00 | 0 | NM_003901.3/ interpretable range CS1>95% |
| SLC25A13 | 95.00 | 0 | NM_014251.2/ interpretable range CS1>95% |
| SLC27A4 | 95.00 | 0 | NM_005094.3/ interpretable range CS1>95% |
| SLC30A2 | 95.00 | 0 | NM_001004434.1/ interpretable range CS1>95% |
| SLC39A4 | 95.00 | 0 | NM_130849.3/ interpretable range CS1>95% |
| SNAP29 | 95.00 | 0 | NM_004782.3/ interpretable range CS1>95% |
| SPINK5 | 95.00 | 0 | NM_006846.3/ interpretable range CS1>95% |
| SREBF1 | 95.00 | 0 | NM_004176.4/ interpretable range CS1>95% |
| ST14 | 95.00 | 0 | NM_021978.3/ interpretable range CS1>95% |
| STS | 95.00 | 0 | NM_000351.4/ interpretable range CS1>95% |
| SULT2B1 | 95.00 | 0 | NM_177973.1/ interpretable range CS1>95% |
| SUMF1 | 95.00 | 0 | NM_182760.3/ interpretable range CS1>95% |
| TBX1 | 95.00 | 0 | NM_080647.1/ interpretable range CS1>95% |
| TGM1 | 95.00 | 0 | NM_000359.2/ interpretable range CS1>95% |
| TGM5 | 95.00 | 0 | NM_201631.3/ interpretable range CS1>95% |
| VIPAS39 | 95.00 | 0 | NM_022067.3/ interpretable range CS1>95% |
| VPS33B | 95.00 | 0 | NM_018668.4/ interpretable range CS1>95% |