Belgian Genetic Tests database- Diseases
- Cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis
| Name: |
Cerebrotendinous xanthomatosis
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| Description: |
Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.
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| ORPHAcode: |
909
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| Synonyms: |
CTX
Sterol 27-hydroxylase deficiency
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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Cholestasis (40 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCB11 100.00 1 Part of Gastro-pneumo panel ABCB4 100.00 1 Part of Gastro-pneumo panel AKR1D1 100.00 1 Part of Gastro-pneumo panel AMACR 100.00 1 Part of Gastro-pneumo panel ATP8B1 100.00 1 Part of Gastro-pneumo panel BAAT 100.00 1 Part of Gastro-pneumo panel BCS1L 100.00 1 Part of Gastro-pneumo panel CC2D2A 100.00 1 Part of Gastro-pneumo panel CLDN1 100.00 1 Part of Gastro-pneumo panel CYP27A1 100.00 1 Part of Gastro-pneumo panel CYP7B1 100.00 1 Part of Gastro-pneumo panel DCDC2 100.00 1 Part of Gastro-pneumo panel DGUOK 100.00 1 Part of Gastro-pneumo panel HNF1B 100.00 1 Part of Gastro-pneumo panel HSD3B7 100.00 1 Part of Gastro-pneumo panel INVS 100.00 1 Part of Gastro-pneumo panel JAG1 100.00 1 Part of Gastro-pneumo panel MKS1 100.00 1 Part of Gastro-pneumo panel MPV17 100.00 1 Part of Gastro-pneumo panel NOTCH2 100.00 1 Part of Gastro-pneumo panel NPC1 100.00 1 Part of Gastro-pneumo panel NPC2 100.00 1 Part of Gastro-pneumo panel NPHP1 100.00 1 Part of Gastro-pneumo panel NPHP3 100.00 1 Part of Gastro-pneumo panel NPHP4 100.00 1 Part of Gastro-pneumo panel NR1H4 100.00 1 Part of Gastro-pneumo panel PKHD1 100.00 1 Part of Gastro-pneumo panel PNPLA3 0.00 1 Part of Gastro-pneumo panel / only rs738409 and rs2294918 POLG 100.00 1 Part of Gastro-pneumo panel SLC25A13 100.00 1 Part of Gastro-pneumo panel SMPD1 100.00 1 Part of Gastro-pneumo panel TALDO1 100.00 1 Part of Gastro-pneumo panel TJP2 100.00 1 Part of Gastro-pneumo panel TM6SF2 0.00 1 Part of Gastro-pneumo panel / only rs58542926 TMC4 0.00 1 Part of Gastro-pneumo panel / only rs641738 TMEM216 100.00 1 Part of Gastro-pneumo panel TRMU 100.00 1 Part of Gastro-pneumo panel UGT1A1 100.00 1 Part of Gastro-pneumo panel VIPAS39 100.00 1 Part of Gastro-pneumo panel VPS33B 100.00 1 Part of Gastro-pneumo panel -
test
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 No comment ABAT 100.00 0 No comment ACTB 99.92 0 No comment ACTG1 100.00 0 No comment ACTL6B 99.16 0 No comment ACY1 99.96 0 No comment ADAR 99.99 0 No comment ADPRS 91.11 0 No comment ADSL 99.73 0 No comment AFG3L2 95.23 0 No comment ALDH7A1 99.83 0 No comment ALG11 100.00 0 No comment ALG13 95.29 0 No comment AMT 100.00 0 No comment ANKRD11 99.99 0 No comment AP3B2 97.74 0 No comment AP4S1 87.73 0 No comment ARFGEF2 99.81 0 No comment ARHGEF9 99.89 0 No comment ARID1B 87.88 0 No comment ARV1 89.03 0 No comment ARX 59.32 0 No comment ASXL3 99.74 0 No comment ATN1 99.12 0 No comment ATP1A2 99.88 0 No comment ATP1A3 99.81 0 No comment BRAT1 99.96 0 No comment BSCL2 100.00 0 No comment CACNA1A 92.18 0 No comment CACNA1B 93.35 0 No comment CACNA1E 99.99 0 No comment CACNA1G 99.63 0 No comment CACNA2D2 94.11 0 No comment CASK 99.78 0 No comment CDK13 88.47 0 No comment CDKL5 97.71 0 No comment CERS1 76.68 0 No comment CERT1 99.89 0 No comment CHD2 99.95 0 No comment CLCN4 99.94 0 No comment CLN3 99.98 0 No comment CLN5 97.84 0 No comment CLN6 91.00 0 No comment CLN8 100.00 0 No comment CLTC 100.00 0 No comment CNKSR2 99.28 0 No comment CNTNAP2 99.99 0 No comment COL18A1 96.27 0 No comment COL4A1 98.54 0 No comment CPLX1 99.70 0 No comment CPT2 97.07 0 No comment CSNK2B 100.00 0 No comment CSTB 92.54 0 No comment CTSD 97.90 0 No comment CUX2 98.72 0 No comment CYFIP2 99.99 0 No comment DCX 99.86 0 No comment DDX3X 99.66 0 No comment DENND5A 98.99 0 No comment DEPDC5 99.97 0 No comment DHDDS 99.77 0 No comment DMXL2 99.86 0 No comment DNM1 94.54 0 No comment DNM1L 99.97 0 No comment DOCK7 99.35 0 No comment DYRK1A 100.00 0 No comment EEF1A2 91.59 0 No comment EHMT1 98.44 0 No comment EPM2A 81.75 0 No comment FARS2 99.99 0 No comment FGF12 100.00 0 No comment FLNA 99.50 0 No comment FMN2 92.71 0 No comment FMR1 99.71 0 No comment FOLR1 100.00 0 No comment FOXG1 75.13 0 No comment FRRS1L 69.11 0 No comment FZR1 100.00 0 No comment GABBR2 95.14 0 No comment GABRA1 100.00 0 No comment GABRA2 100.00 0 No comment GABRB1 100.00 0 No comment GABRB2 100.00 0 No comment GABRB3 98.87 0 No comment GABRG2 92.15 0 No comment GAD1 100.00 0 No comment GAMT 95.00 0 No comment GBA1 100.00 0 No comment GLDC 96.06 0 No comment GNAO1 100.00 0 No comment GNB1 100.00 0 No comment GNB5 99.70 0 No comment GOSR2 99.87 0 No comment GPHN 100.00 0 No comment GRIA2 100.00 0 No comment GRIA3 97.93 0 No comment GRIK2 99.97 0 No comment GRIN1 99.74 0 No comment GRIN2A 100.00 0 No comment GRIN2B 100.00 0 No comment GRIN2D 61.45 0 No comment HCN1 93.52 0 No comment HECW2 99.99 0 No comment HNRNPU 95.95 0 No comment HUWE1 99.62 0 No comment IER3IP1 99.80 0 No comment IFIH1 99.99 0 No comment IQSEC2 91.31 0 No comment IRF2BPL 91.18 0 No comment ITPA 100.00 0 No comment KANSL1 99.98 0 No comment KARS1 99.99 0 No comment KCNA1 100.00 0 No comment KCNA2 100.00 0 No comment KCNB1 99.01 0 No comment KCNC1 99.52 0 No comment KCNH1 99.96 0 No comment KCNJ10 100.00 0 No comment KCNK4 96.68 0 No comment KCNMA1 99.92 0 No comment KCNQ2 98.57 0 No comment KCNQ3 95.56 0 No comment KCNQ5 94.69 0 No comment KCNT1 97.66 0 No comment KCNT2 100.00 0 No comment KCTD7 97.74 0 No comment KDM5C 99.69 0 No comment KIF1A 99.96 0 No comment KIF2A 99.83 0 No comment KIF5C 99.91 0 No comment KMT2E 99.89 0 No comment MAP1B 99.93 0 No comment MBD5 100.00 0 No comment MECP2 91.83 0 No comment MED13L 99.94 0 No comment MEF2C 100.00 0 No comment MFSD8 100.00 0 No comment MOCS1 97.59 0 No comment MOCS2 100.00 0 No comment MTOR 99.89 0 No comment NARS2 99.98 0 No comment NBEA 98.89 0 No comment NEU1 100.00 0 No comment NEXMIF 99.96 0 No comment NF1 99.55 0 No comment NF2 99.93 0 No comment NHLRC1 99.28 0 No comment NIPA1 84.21 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NRXN1 98.90 0 No comment NTRK2 100.00 0 No comment NUS1 98.46 0 No comment OTUD6B 99.73 0 No comment PACS2 96.45 0 No comment PAFAH1B1 100.00 0 No comment PARS2 100.00 0 No comment PCDH19 99.80 0 No comment PHACTR1 97.55 0 No comment PIGA 99.89 0 No comment PIGN 99.84 0 No comment PIGQ 100.00 0 No comment PIGS 100.00 0 No comment PIGT 100.00 0 No comment PLCB1 99.97 0 No comment PLPBP 99.57 0 No comment PNKP 99.98 0 No comment PNPO 99.98 0 No comment POLG 99.86 0 No comment PPP2R5D 99.94 0 No comment PPP3CA 99.93 0 No comment PPT1 100.00 0 No comment PRICKLE1 100.00 0 No comment PRRT2 100.00 0 No comment PTEN 92.28 0 No comment PURA 85.06 0 No comment QARS1 100.00 0 No comment RELN 99.97 0 No comment RHOBTB2 99.98 0 No comment RNASEH2A 99.99 0 No comment RNASEH2B 93.70 0 No comment RNASEH2C 95.34 0 No comment ROGDI 94.47 0 No comment RORA 97.11 0 No comment RORB 100.00 0 No comment RTN4IP1 100.00 0 No comment SAMHD1 100.00 0 No comment SCARB2 100.00 0 No comment SCN1A 99.91 0 No comment SCN1B 95.75 0 No comment SCN2A 100.00 0 No comment SCN3A 100.00 0 No comment SCN8A 99.95 0 No comment SERPINI1 99.98 0 No comment SETD2 99.95 0 No comment SIK1 99.98 0 No comment SLC12A5 99.55 0 No comment SLC13A5 99.89 0 No comment SLC19A3 100.00 0 No comment SLC1A2 99.99 0 No comment SLC25A12 100.00 0 No comment SLC25A22 99.88 0 No comment SLC2A1 99.27 0 No comment SLC35A2 99.82 0 No comment SLC35A3 99.97 0 No comment SLC6A1 99.93 0 No comment SLC6A8 91.78 0 No comment SLC9A6 94.23 0 No comment SMARCA2 97.46 0 No comment SMC1A 99.50 0 No comment SNAP25 100.00 0 No comment AFG2A 100.00 0 No comment SPTAN1 99.98 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 93.40 0 No comment STAG1 99.98 0 No comment STX1B 99.89 0 No comment STXBP1 100.00 0 No comment SYN1 75.34 0 No comment SYNGAP1 98.18 0 No comment SYNJ1 99.27 0 No comment SZT2 99.94 0 No comment TANC2 100.00 0 No comment TBC1D24 99.73 0 No comment TBCD 96.99 0 No comment TCF4 99.90 0 No comment TK2 85.99 0 No comment ACD 99.86 0 No comment TRAK1 99.99 0 No comment TRAPPC6B 100.00 0 No comment TREX1 100.00 0 No comment TRIT1 99.98 0 No comment TSC1 99.97 0 No comment TSC2 99.99 0 No comment TUBA1A 100.00 0 No comment TUBB2B 100.00 0 No comment UBA5 99.97 0 No comment UBE3A 99.97 0 No comment UFC1 99.91 0 No comment UGDH 99.96 0 No comment VARS1 100.00 0 No comment VARS2 100.00 0 No comment WDR26 99.78 0 No comment WDR45 99.67 0 No comment WWOX 100.00 0 No comment YWHAG 100.00 0 No comment ZBTB18 99.11 0 No comment ZEB2 99.91 0 No comment ZNHIT3 74.73 0 No comment