Belgian Genetic Tests database- Diseases
- CHARGE syndrome
CHARGE syndrome
| Name: |
CHARGE syndrome
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| Description: |
CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
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| ORPHAcode: |
138
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| Synonyms: |
CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
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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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CHARGE (2 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments CHD7 SEMA3E -
Cakut (congenital anomalies of the kidney and urinary tract-1) (69 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 100.00 1 NM_000789.4 ACTG2 100.00 1 NM_001615.4 AGT 100.00 1 NM_001384479.1 AGTR1 100.00 1 NM_000685.5 ANOS1 100.00 1 NM_000216.4 BMP4 100.00 1 NM_001202.6 BMP7 100.00 1 NM_001719.3 CDC5L 100.00 1 NM_001253.4 CHD1L 100.00 1 NM_004284.6 CHD7 100.00 1 NM_017780.4 DSTYK 100.00 1 NM_015375.3 EYA1 100.00 1 NM_000503.6 FGF20 100.00 1 NM_019851.3 FRAS1 100.00 1 NM_025074.7 FREM1 100.00 1 NM_001379081.2 FREM2 100.00 1 NM_207361.6 GATA3 100.00 1 NM_001002295.2 GLI3 100.00 1 NM_000168.6 GREB1L 100.00 1 NM_001142966.3 GRIP1 100.00 1 NM_001366722.1 HNF1B 100.00 1 NM_000458.4 ITGA8 100.00 1 NM_003638.3 NOTCH2 99.00 1 NM_024408.4 NPHP3 100.00 1 NM_153240.5 PAX2 100.00 1 NM_000278.5 PBX1 100.00 1 NM_002585.4 REN 100.00 1 NM_000537.4 RET 100.00 1 NM_020975.6 ROBO2 100.00 1 NM_001395656.1 RPGRIP1L 96.00 1 NM_015272.5 SALL1 100.00 1 NM_002968.3 SALL4 100.00 1 NM_020436.5 SIX1 100.00 1 NM_005982.4 SIX2 100.00 1 NM_016932.5 SIX5 100.00 1 NM_175875.5 SOX17 100.00 1 NM_022454.4 TBX18 100.00 1 NM_001080508.3 UMOD 100.00 1 NM_003361.4 UPK3A 100.00 1 NM_006953.4 WNT4 100.00 1 NM_030761.5 AGTR2 100.00 1 NM_000686.5 AGXT 100.00 1 NM_000030.3 BNC2 100.00 1 NM_017637.6 CCNQ 100.00 1 NM_152274.5 CEP55 100.00 1 NM_018131.5 CHRM3 100.00 1 NM_001375978.1 CHRNA3 100.00 1 NM_000743.5 CTU2 100.00 1 NM_001012759.3 FOXC1 100.00 1 NM_001453.3 GPC3 100.00 1 NM_004484.4 HOXA13 100.00 1 NM_000522.5 HPSE2 100.00 1 NM_021828.5 JAG1 100.00 1 NM_000214.3 KIF14 100.00 1 NM_014875.3 LIFR 100.00 1 NM_001127671.2 LRIG2 100.00 1 NM_014813.3 LRP4 100.00 1 NM_002334.4 NADSYN1 100.00 1 NM_018161.5 ROBO1 100.00 1 NM_002941.4 SDCCAG8 100.00 1 NM_006642.5 SLIT2 100.00 1 NM_004787.4 STRA6 100.00 1 NM_022369.4 TBC1D1 100.00 1 NM_001396959.1 TFAP2A 100.00 1 NM_001372066.1 TMEM260 100.00 1 NM_017799.4 TRAP1 100.00 1 NM_016292.3 WFS1 100.00 1 NM_006005.3 ZIC3 100.00 1 NM_003413.4 ZMYM2 100.00 1 NM_197968.4 -
Hypogonadotropic Hypogonadism/Kallmann (61 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments LEPR 98.65 0 NM_002303 KISS1 99.66 0 NM_002256 RD3 99.63 0 NM_183059 HS6ST1 92.39 0 NM_004807 CXCR4 99.63 0 NM_003467 CCDC141 97.45 0 NM_173648 NRP2 99.58 0 NM_201266 IL17RD 94.68 0 NM_017563 HESX1 98.36 0 NM_003865 PROK2 90.75 0 NM_001126128 GAP43 97.81 0 NM_001130064 PLXNA1 99.67 0 NM_032242 SOX2 95.94 0 NM_003106 KLB 99.62 0 NM_175737 GNRHR 99.45 0 NM_000406 TACR3 99.41 0 NM_001059 OTUD4 98.02 0 NM_001102653 PCSK1 99.63 0 NM_000439 SOX9 99.60 0 NM_001035235 SPRY4 99.69 0 NM_030964 PROP1 99.69 0 NM_006261 GLI3 99.55 0 NM_000168 SEMA3E 99.45 0 NM_012431 SEMA3A 99.53 0 NM_006080 FEZF1 99.43 0 NM_001024613 LEP 99.69 0 NM_000230 FGF17 99.67 0 NM_003867 GNRH1 99.54 0 NM_000825 FGFR1 99.69 0 NM_023110 CHD7 99.53 0 NM_017780 TRAPPC9 99.57 0 NM_031466 PALM2 98.64 0 NM_001037293 NOTCH1 96.74 0 NM_017617 NSMF 93.42 0 NM_015537 MASTL 99.20 0 NM_032844 FGF8 78.88 0 NM_033163 WDR11 99.33 0 NM_018117 CCKBR 99.61 0 NM_176875 FSHB 99.64 0 NM_000510 PLEKHA5 98.89 0 NM_001143821 PDE3A 99.05 0 NM_000921 TSPAN11 99.69 0 NM_001080509 AMN1 99.52 0 NM_001113402 TAC3 99.64 0 NM_013251 DUSP6 99.68 0 NM_001946 POLR3B 99.29 0 NM_018082 CRY1 99.26 0 NM_004075 NOS1 99.42 0 NM_000620 SEMA7A 92.63 0 NM_003612 DCC 99.55 0 NM_005215 KISS1R 85.01 0 NM_032551 AXL 99.69 0 NM_021913 LHB 99.69 0 NM_000894 PROKR2 99.69 0 NM_144773 JAG1 97.49 0 NM_000214 FLRT3 99.67 0 NM_198391 SOX10 93.26 0 NM_006941 ANOS1 93.11 0 NM_000216 NR0B1 99.34 0 NM_000475 FGF13 99.32 0 NM_004114 SOX3 83.29 0 NM_005634 -
Hypogonadotropic hypogonadism (33 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ANOS1 95.04 0 No comment CHD7 100.00 0 No comment DMXL2 100.00 0 No comment DUSP6 100.00 0 No comment FEZF1 100.00 0 No comment FGF17 100.00 0 No comment FGF8 94.82 0 No comment FGFR1 100.00 0 No comment FLRT3 100.00 0 No comment FSHB 100.00 0 No comment GNRH1 100.00 0 No comment GNRHR 100.00 0 No comment HESX1 100.00 0 No comment HS6ST1 98.52 0 No comment IL17RD 98.31 0 No comment KISS1 100.00 0 No comment KISS1R 94.58 0 No comment LHB 97.18 0 No comment MKRN3 100.00 0 No comment NR0B1 100.00 0 No comment NSMF 95.23 0 No comment OTUD4 100.00 0 No comment PCSK1 100.00 0 No comment PNPLA6 100.00 0 No comment PROK2 98.51 0 No comment PROKR2 100.00 0 No comment RNF216 100.00 0 No comment SEMA3A 100.00 0 No comment SEMA7A 93.22 0 No comment SOX10 96.79 0 No comment TAC3 100.00 0 No comment TACR3 100.00 0 No comment WDR11 100.00 0 No comment