Belgian Genetic Tests database- Diseases
- Hypochondroplasia
Hypochondroplasia
| Name: |
Hypochondroplasia
|
| Description: |
A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
|
| ORPHAcode: |
429
|
| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
|
| Changed: |
01 May 2022 - 06:55
|
- Hypochondroplasia (full sequencing)
- Hypochondroplasia (full sequencing)
- Hypochondroplasia (hot spot mutation - p.Asn540)
- Hypochondroplasia (hot spot mutation - p.Asn540Lys)
- Hypochondroplasia (Hotspot mutation p.(Asn540Lys))
- Hypochondroplasia (hot spot mutations - p.Asn540; p.Ile538; p.Lys650 FGFR3)
- Short Stature (gene panel)
- Short stature/ Growth retardation/ (gene panel)
-
Growth retardation/short stature (52 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACAN ANKRD11 ARID1A ATR CCDC8 CDC45 CDC6 CDT1 CENPJ CEP152 CEP63 CHD4 CUL7 DNA2 FGD1 FGFR3 FLNA GH1 GHR GHRHR GHSR GMNN IGF1 IGF1R KMT2A NIN NPPC NPR2 NPR3 OBSL1 ORC1 ORC4 ORC6 PCNT POC1A PTPN11 RBBP8 ROR2 SHOX SRCAP STAT5B THRA TRAIP TRIM37 WNT5A IGF2 IGFALS IKBKB IL2RG PAPPA2 PIK3R1 STAT3 -
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