Belgian Genetic Tests database
Short Stature (46 genes) - IPG
| Full name: |
Short Stature (46 genes) - IPG
|
| Version number: |
Version 3
|
| Laboratory: | |
| Responsible personnel member: | |
| Created: |
04 Jul 2019 - 10:43
|
| Changed: |
20 Dec 2021 - 16:52
|
| 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 |