Belgian Genetic Tests database- Diseases
- Muenke syndrome
Muenke syndrome
| Name: |
Muenke syndrome
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| Description: |
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.
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| ORPHAcode: |
53271
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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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- Craniosynostosis (gene panel)
- Craniosynostosis / Muenke syndrome (hot spot mutation - p.Pro250Arg)
- Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250 in FGFR3 gene )
- Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg)
- Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg)
- Short Stature (gene panel)
- Short stature/ Growth retardation/ (gene panel)
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Craniosynostosis (32 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ASXL1 95.00 0 NM_015338.6/ interpretable range CS1>95% COLEC10 95.00 0 NM_006438.5/ interpretable range CS1>95% COLEC11 95.00 0 NM_024027.5/ interpretable range CS1>95% CYP26B1 95.00 0 NM_019885.4/ interpretable range CS1>95% EFNB1 95.00 0 NM_004429.5/ interpretable range CS1>95% ERF 95.00 0 NM_006494.4/ interpretable range CS1>95% FAM111A 95.00 0 NM_022074.4/ interpretable range CS1>95% FGFR1 95.00 0 NM_023110.3/ interpretable range CS1>95% FGFR2 95.00 0 NM_000141.5/ interpretable range CS1>95% FGFR3 95.00 0 NM_000142.5/ interpretable range CS1>95% HNRNPK 95.00 0 NM_002140.5/ interpretable range CS1>95% IL11RA 95.00 0 NM_001142784.3/ interpretable range CS1>95% IL6ST 95.00 0 NM_002184.4/ interpretable range CS1>95% LTBP1 95.00 0 NM_206943.4/ interpretable range CS1>95% MASP1 95.00 0 NM_139125.4/ interpretable range CS1>95% MEGF8 95.00 0 NM_001410.3/ interpretable range CS1>95% MSX2 95.00 0 NM_002449.5/ interpretable range CS1>95% POR 95.00 0 NM_001367562.3/ interpretable range CS1>95% RAB23 95.00 0 RAB23 NM_183227.3/ interpretable range CS1>95% RECQL4 95.00 0 NM_004260.4/ interpretable range CS1>95% RUNX2 95.00 0 NM_001024630.4/ interpretable range CS1>95% SIX1 95.00 0 NM_005982.4/ interpretable range CS1>95% SKI 95.00 0 SKI NM_003036.4/ interpretable range CS1>95% SLC25A24 95.00 0 NM_013386.5/ interpretable range CS1>95% SMAD6 95.00 0 NM_005585.5/ interpretable range CS1>95% SMO 95.00 0 NM_005631.5/ interpretable range CS1>95% TCF12 95.00 0 NM_207036.2/ interpretable range CS1>95% TFAP2B 95.00 0 NM_003221.4/ interpretable range CS1>95% TRAF7 95.00 0 NM_032271.3/ interpretable range CS1>95% TWIST1 95.00 0 NM_000474.4/ interpretable range CS1>95% ZIC1 95.00 0 NM_003412.4/ interpretable range CS1>95% ZNF462 95.00 0 NM_021224.6/ interpretable range CS1>95% -
Growth retardation/short stature (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACAN 98.48 1 ALPL 99.97 1 ANKRD11 100.00 1 ARCN1 99.91 1 ARID1A 98.84 1 ARID1B 97.80 1 ARID2 99.96 1 BMP2 99.97 1 BRAF 98.17 1 BTK 99.34 1 CBL 99.89 1 CCDC8 100.00 1 CDC45 100.00 1 CDC6 99.94 1 CDKN1C 97.19 1 CDT1 94.33 1 CREBBP 99.91 1 CUL7 100.00 1 DHCR7 100.00 1 DVL1 100.00 1 EP300 99.96 1 FGD1 98.85 1 FGFR3 99.67 1 FLNA 99.89 1 GH1 100.00 1 GHR 99.78 1 GHRHR 99.79 1 GHSR 99.99 1 GMNN 99.70 1 HESX1 99.81 1 HMGA2 72.70 1 HRAS 100.00 1 IGF1 99.96 1 IGF1R 99.98 1 IGF2 100.00 1 IGFALS 100.00 1 IHH 99.93 1 KDM6A 98.95 1 KMT2A 99.18 1 KMT2D 99.98 1 KRAS 99.92 1 LZTR1 99.99 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAPK1 99.56 1 MRAS 100.00 1 NBAS 99.97 1 NPR2 99.97 1 NRAS 99.45 1 OBSL1 99.32 1 ORC1 99.96 1 ORC4 99.90 1 ORC6 99.91 1 PAPPA2 99.91 1 PIK3R1 99.80 1 PLAG1 99.90 1 POC1A 99.98 1 POU1F1 99.92 1 PPP1CB 99.99 1 PTPN11 99.91 1 RAF1 99.96 1 RASA2 99.59 1 RIT1 99.96 1 RNPC3 99.76 1 ROR2 99.24 1 RRAS2 99.60 1 SHOC2 99.81 1 SHOX 94.81 1 SMARCA4 99.98 1 SMARCB1 100.00 1 SOS1 99.81 1 SOS2 99.70 1 SOX3 97.93 1 SPRED2 99.96 1 SRCAP 99.97 1 STAT5B 99.94 1 TOP3A 99.95 1 TRIM37 99.81 1 WNT5A 99.96 1 YY1 99.63 1 -
Short Stature (46 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACAN 90.00 1 NM_001369268.1 ANKRD11 100.00 1 NM_013275.6 BRAF 100.00 1 NM_001354609.2 BTK 100.00 1 NM_000061.3 CBL 100.00 1 NM_005188.4 CCDC8 100.00 1 NM_032040.5 CREBBP 100.00 1 NM_004380.3 CUL7 100.00 1 NM_014780.5 DHCR7 100.00 1 NM_001360.3 DVL1 100.00 1 NM_001330311.2 EP300 100.00 1 NM_001429.4 FGD1 100.00 1 NM_004463.3 FGFR3 100.00 1 NM_001163213.1 GH1 100.00 1 NM_000515.5 GHR 100.00 1 NM_000163.5 GHRHR 100.00 1 NM_000823.4 GHSR 100.00 1 NM_198407.2 HRAS 100.00 1 NM_005343.4 IGF1 100.00 1 NM_000618.5 IGF1R 100.00 1 NM_000875.5 IGF2 100.00 1 NM_000612.6 IGFALS 100.00 1 NM_004970.3 KDM6A 100.00 1 NM_001291415.2 KMT2D 100.00 1 NM_003482.3 KRAS 100.00 1 NM_033360.4 NPPC 100.00 1 NM_024409.4 NPR2 100.00 1 NM_003995.3 NPR3 100.00 1 NM_001204375.2 NRAS 100.00 1 NM_002524.5 OBSL1 100.00 1 NM_015311.3 PIK3R1 100.00 1 NM_181523.3 POU1F1 100.00 1 NM_000306.4 PTPN11 100.00 1 NM_002834.5 RAF1 100.00 1 NM_001354689.3 RASA2 100.00 1 NM_006506.5 RIT1 100.00 1 NM_006912.6 ROR2 100.00 1 NM_004560.4 RPS6KA3 100.00 1 NM_004586.3 SHOC2 100.00 1 NM_007373.4 SHOX 100.00 1 NM_000451.3 SOS1 100.00 1 NM_005633.3 SOX3 100.00 1 NM_005634.2 SRCAP 100.00 1 NM_006662.3 STAT5B 100.00 1 NM_012448.4 TRIM37 100.00 1 NM_015294.6 WNT5A 100.00 1 NM_003392.4