Ichthyosis and erythroderma (98 genes) - KUL

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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
Version number:
v11_102022
Laboratory:
Centrum Menselijke Erfelijkheid - KUL
Created:
02 Jul 2019 - 12:43
Changed:
23 Aug 2023 - 08:58
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