Ichthyosis and erythroderma (98 genes) - KUL
Full name: |
Ichthyosis and erythroderma (98 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
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Version number: |
v11_102022
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Laboratory: | |
Created: |
02 Jul 2019 - 12:43
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Changed: |
23 Aug 2023 - 08:58
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Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ABCA12 | 95.00 | 0 | NM_173076.3 |
ABHD5 | 95.00 | 0 | NM_016006.6 |
ADAM17 | 95.00 | 0 | NM_003183.6 |
ALDH3A2 | 95.00 | 0 | NM_000382.3 |
ALOX12B | 95.00 | 0 | NM_001139.3 |
ALOXE3 | 95.00 | 0 | NM_021628.3 |
AP1B1 | 95.00 | 0 | NM_001127.4 |
AP1S1 | 95.00 | 0 | NM_001283.5 |
ASPRV1 | 95.00 | 0 | NM_152792.4 |
ASS1 | 95.00 | 0 | NM_000050.4 |
ATP7A | 95.00 | 0 | NM_000052.7 |
BCKDHA | 95.00 | 0 | NM_000709.4 |
BCKDHB | 95.00 | 0 | NM_183050.4 |
BTD | 95.00 | 0 | NM_001370658.1 |
BTK | 95.00 | 0 | NM_000061.3 |
CAPN12 | 95.00 | 0 | NM_144691.4 |
CARD14 | 95.00 | 0 | NM_024110.4 |
CASP14 | 95.00 | 0 | NM_012114.3 |
CAST | 95.00 | 0 | NM_001042440.5 |
CDSN | 95.00 | 0 | NM_001264.5 |
CERS3 | 95.00 | 0 | NM_178842.5 |
CHST8 | 95.00 | 0 | NM_001127896.2 |
CLDN1 | 95.00 | 0 | NM_021101.5 |
CPS1 | 95.00 | 0 | NM_001875.5 |
CSTA | 95.00 | 0 | NM_005213.4 |
CTSB | 95.00 | 0 | NM_001908.5 |
CYP4F22 | 95.00 | 0 | NM_173483.4 |
DBT | 95.00 | 0 | NM_001918.5 |
DCLRE1C | 95.00 | 0 | NM_001033855.3 |
DLD | 95.00 | 0 | NM_000108.5 |
DSG1 | 95.00 | 0 | NM_001942.4 |
EBP | 95.00 | 0 | NM_006579.3 |
ELOVL1 | 95.00 | 0 | NM_001256399.2 |
ELOVL4 | 95.00 | 0 | NM_022726.4 |
ERCC2 | 95.00 | 0 | NM_000400.4 |
ERCC3 | 95.00 | 0 | NM_000122.2 |
FLG | 95.00 | 0 | NM_002016.2 |
FLG2 | 95.00 | 0 | NM_001014342.3 |
GBA1 | 95.00 | 0 | NM_001005741.3 |
GJA1 | 95.00 | 0 | NM_000165.5 |
GJB2 | 95.00 | 0 | NM_004004.6 |
GJB3 | 95.00 | 0 | NM_024009.3 |
GJB4 | 95.00 | 0 | NM_153212.3 |
GJB6 | 95.00 | 0 | NM_006783.5 |
GTF2E2 | 95.00 | 0 | NM_002095.6 |
GTF2H5 | 95.00 | 0 | NM_207118.3 |
HLCS | 95.00 | 0 | NM_000411.8 |
IL36RN | 95.00 | 0 | NM_012275.3 |
KDSR | 95.00 | 0 | NM_002035.4 |
KIT | 95.00 | 0 | NM_000222.3 |
KRT1 | 95.00 | 0 | NM_006121.4 |
KRT10 | 95.00 | 0 | NM_000421.5 |
KRT14 | 95.00 | 0 | NM_000526.5 |
KRT16 | 95.00 | 0 | NM_005557.4 |
KRT2 | 95.00 | 0 | NM_000423.3 |
KRT5 | 95.00 | 0 | NM_000424.4 |
KRT6C | 95.00 | 0 | NM_173086.5 |
KRT83 | 95.00 | 0 | NM_002282.3 |
KRT9 | 95.00 | 0 | NM_000226.4 |
LIPN | 95.00 | 0 | NM_001102469.2 |
LORICRIN | 95.00 | 0 | NM_000427.3 |
MBTPS2 | 95.00 | 0 | NM_015884.4 |
MMUT | 95.00 | 0 | NM_000255.4 |
MPLKIP | 95.00 | 0 | NM_138701.4 |
NIPAL4 | 95.00 | 0 | NM_001099287.2 |
NSDHL | 95.00 | 0 | NM_015922.3 |
PCCA | 95.00 | 0 | NM_000282.4 |
PCCB | 95.00 | 0 | NM_000532.5 |
PERP | 95.00 | 0 | NM_022121.5 |
PEX7 | 95.00 | 0 | NM_000288.4 |
PHYH | 95.00 | 0 | NM_006214.4 |
PIGL | 95.00 | 0 | NM_004278.4 |
PNPLA1 | 95.00 | 0 | NM_001145717.1 |
POMP | 95.00 | 0 | NM_015932.6 |
RAG1 | 95.00 | 0 | NM_000448.3 |
RAG2 | 95.00 | 0 | NM_000536.4 |
RNF113A | 95.00 | 0 | NM_006978.3 |
SDR9C7 | 95.00 | 0 | NM_148897.3 |
SERPINB7 | 95.00 | 0 | NM_003784.4 |
SERPINB8 | 95.00 | 0 | NM_198833.2 |
SGPL1 | 95.00 | 0 | NM_003901.4 |
SLC25A13 | 95.00 | 0 | NM_014251.3 |
SLC27A4 | 95.00 | 0 | NM_005094.4 |
SLC30A2 | 95.00 | 0 | NM_001004434.3 |
SLC39A4 | 95.00 | 0 | NM_130849.4 |
SNAP29 | 95.00 | 0 | NM_004782.4 |
SPINK5 | 95.00 | 0 | NM_006846.4 |
SREBF1 | 95.00 | 0 | NM_004176.5 |
ST14 | 95.00 | 0 | NM_021978.4 |
STS | 95.00 | 0 | NM_000351.7 |
SULT2B1 | 95.00 | 0 | NM_177973.2 |
SUMF1 | 95.00 | 0 | NM_182760.4 |
TBX1 | 95.00 | 0 | NM_080647.1 |
TGM1 | 95.00 | 0 | NM_000359.3 |
TGM5 | 95.00 | 0 | NM_201631.4 |
TRPM4 | 95.00 | 0 | NM_017636.4 |
VIPAS39 | 95.00 | 0 | NM_022067.4 |
VPS33B | 95.00 | 0 | NM_018668.5 |