- Analytes
- GDF2
GDF2
Name: |
growth differentiation factor 2
|
Symbol: |
GDF2
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
BMP-9
BMP9
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
- Arteriovenous malformation (gene panel)
- Capillary malformation - arteriovenous malformation (2 genes)
- Cerebral cavernous malformation (gene panel)
- Primary Arterial Hypertension (gene panel)
- Primary lymphedema / fetal hydrops (gene panel)
- Pulmonary Arterial Hypertension / Rendu Osler Weber disease (gene panel - 24 genes)
- Rendu-Osler-Weber disease (4 genes)
- Respiratory disorders (gene panel): non-CF bronchiectasis; pulmonary hypertension; interstitial lung disease
- Telangiectasia,hereditary hemorrhagic of Rendu Osler and Weber (gene panel)
- Trombosis - Hemostasis (gene panel)
- Venous malformation (3 genes)
-
Arteriovenous malformation (7 genes)
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACVRL1 100.00 1 No comment ENG 100.00 1 No comment EPHB4 100.00 -2 No comment GDF2 100.00 1 No comment PTEN 100.00 1 No comment RASA1 100.00 1 No comment SMAD4 100.00 1 No comment -
Primary Arterial Hypertension (19 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACVRL1 100.00 0 NM_000020.2 AQP1 100.00 0 NM_198098.3 ATP13A3 100.00 0 NM_024524.3 BMPR1B 100.00 0 NM_001203.2 BMPR2 100.00 0 NM_001204.6 CAV1 100.00 0 NM_001753.4 EIF2AK4 100.00 0 NM_001013703.3 ENG 100.00 0 NM_000118.3 EPHB4 100.00 0 NM_004444.4 GDF2 100.00 0 NM_016204.3 KCNA5 100.00 0 NM_002234.3 KCNK3 100.00 0 NM_002246.2 KDR 100.00 0 NM_002253.3 RASA1 100.00 0 NM_002890.3 SMAD4 100.00 0 NM_005359.5 SMAD9 100.00 0 NM_001127217.2 SOX17 100.00 0 NM_022454.3 TBX4 100.00 0 NM_018488.3 SMAD1 100.00 0 NM_005900.3 -
Pulmonary Arterial Hypertension (24 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BMPR2 100.00 0 ACVRL1 100.00 0 ENG 100.00 0 CAV1 100.00 0 SMAD9 100.00 0 KCNK3 94.00 0 BMPR1B 100.00 0 SMAD4 98.00 0 EIF2AK4 100.00 0 TBX4 95.00 0 GDF2 100.00 0 -
Rendu/Osler/weber (4 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ENG 100.00 1 Part of constitutional vascular panel SMAD4 100.00 1 Part of constitutional vascular panel GDF2 100.00 1 Part of constitutional vascular panel ACVRL1 100.00 1 Part of constitutional vascular panel -
Respiratory Disorders panel (137 genes) - Ugent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA3 99.96 1 ABCC8 99.98 1 ACVRL1 99.88 1 AP3B1 99.89 1 AQP1 99.99 1 ARHGEF1 99.97 1 ASAH1 99.90 1 ASCL1 99.82 1 ATP13A3 99.84 1 ATP6AP1 100.00 1 BDNF 100.00 1 BLOC1S3 100.00 1 BLOC1S6 99.98 1 BMP10 99.96 1 BMPR1B 99.61 1 BMPR2 99.95 1 CARD11 99.97 1 CAV1 99.97 1 CCDC39 99.74 1 CCDC40 100.00 1 CD19 99.98 1 CD81 99.97 1 CIITA 99.99 1 CLEC1A 99.97 1 CLEC7A 99.98 1 COPA 99.61 1 CR2 99.97 1 CSF2RA 93.86 1 CSF2RB 100.00 1 CTLA4 99.99 1 CTNNBL1 100.00 1 DKC1 99.59 1 DNAAF1 99.99 1 DNAAF2 99.91 1 DNAH11 99.93 1 DNAH5 99.98 1 DNAI1 99.92 1 DNAI2 99.86 1 DNAH9 99.79 1 DOCK8 99.86 1 DTNBP1 99.89 1 EFEMP2 99.94 1 EIF2AK4 99.97 1 ELMOD2 99.80 1 ELN 99.86 1 ENG 100.00 1 ERBIN 99.69 1 FAM111B 99.98 1 FARSA 100.00 1 FARSB 99.64 1 FBLN5 100.00 1 FLNA 99.99 1 FNIP1 99.87 1 FOXF1 99.99 1 FOXP3 99.93 1 GARS1 99.93 1 GATA2 99.99 1 GBA1 96.92 1 GDF2 100.00 1 HPS1 100.00 1 HPS3 99.91 1 HPS4 99.98 1 HPS5 99.91 1 HPS6 100.00 1 IKZF1 99.92 1 IL6R 92.46 1 IL6ST 99.88 1 IRF2BP2 100.00 1 ITCH 95.57 1 ITGA3 99.86 1 KCNA5 100.00 1 KCNK3 100.00 1 KDR 99.86 1 LRBA 99.76 1 LTBP4 99.99 1 MARS1 99.97 1 MOGS 100.00 1 MS4A1 99.60 1 MUC5B 99.94 1 NFKB1 99.80 1 NFKB2 99.98 1 NKX2-1 100.00 1 NME8 99.83 1 NOD2 99.98 1 NOTCH3 99.99 1 NSMCE3 100.00 1 OAS1 99.96 1 PARN 99.75 1 PGM3 99.94 1 PIK3CD 99.99 1 PIK3CG 99.72 1 PIK3R1 99.86 1 POU2AF1 99.43 1 PTEN 99.89 1 RAC2 99.99 1 RFX5 99.88 1 RFXANK 100.00 1 RFXAP 99.98 1 RGPD4 71.96 1 RSPH4A 99.95 1 RSPH9 99.99 1 RTEL1 100.00 1 SCNN1A 100.00 1 SCNN1B 99.38 1 SCNN1G 99.94 1 SEC61A1 99.99 1 SERPINA1 100.00 1 SFTPA1 99.99 1 SFTPA2 99.81 1 SFTPB 99.99 1 SFTPC 99.99 1 SFTPD 99.62 1 SH3KBP1 99.95 1 SLC34A2 99.99 1 SLC7A7 99.99 1 SMAD4 99.97 1 SMAD9 99.99 1 SMPD1 100.00 1 SOX17 100.00 1 SPINK5 99.91 1 STAT3 99.97 1 STAT5B 99.50 1 STING1 99.87 1 TBX4 99.96 1 TERC 98.59 1 TERT 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TINF2 100.00 1 TNFRSF13B 99.43 1 TNFRSF13C 99.99 1 TNFSF12 100.00 1 TNFSF13 100.00 1 TRNT1 99.97 1 TSC1 99.99 1 TSC2 99.98 1 ZNF341 100.00 1 -
Telangiectasia,hereditary hemorrhagic of Rendu Osler and Weber (6 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACVRL1 100.00 1 ENG 100.00 1 SMAD4 100.00 0 GDF2 100.00 0 EPHB4 100.00 0 RASA1 100.00 0 -
Trombosis - Hemostasis (107 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC4 95.00 0 NM_005845.4/ interpretable range CS1>95% ABCG5 95.00 0 NM_022436.2/ interpretable range CS1>95% ABCG8 95.00 0 NM_022437.2/ interpretable range CS1>95% ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95% ACTN1 95.00 0 NM_001130004.1/ interpretable range CS1>95% ACVRL1 95.00 0 NM_000020.2/ interpretable range CS1>95% ADAMTS13 95.00 0 NM_139025.4/ interpretable range CS1>95% ANKRD26 95.00 0 NM_014915.2/ interpretable range CS1>95% ANO6 95.00 0 NM_001025356.2/ interpretable range CS1>95% AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95% AP3D1 95.00 0 NM_001261826.1/ interpretable range CS1>95% ARPC1B 95.00 0 NM_005720.3/ interpretable range CS1>95% BLOC1S3 95.00 0 NM_212550.3/ interpretable range CS1>95% BLOC1S5 95.00 0 NM_201280.2/ interpretable range CS1>95% BLOC1S6 95.00 0 NM_012388.2/ interpretable range CS1>95% CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95% CHST14 95.00 0 NM_130468.3/ interpretable range CS1>95% COL1A1 95.00 0 NM_000088.3/ interpretable range CS1>95% COL3A1 95.00 0 NM_000090.3/ interpretable range CS1>95% COL4A1 95.00 0 NM_001845.5/ interpretable range CS1>95% COL4A2 95.00 0 NM_001846.3/ interpretable range CS1>95% COL5A1 95.00 0 NM_000093.4/ interpretable range CS1>95% COL5A2 95.00 0 NM_000393.3/ interpretable range CS1>95% CYCS 95.00 0 NM_018947.5/ interpretable range CS1>95% DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95% DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95% ENG 95.00 0 NM_000118.3/ interpretable range CS1>95% ETV6 95.00 0 NM_001987.4/ interpretable range CS1>95% F10 95.00 0 NM_000504.3/ interpretable range CS1>95% F11 95.00 0 NM_000128.3/ interpretable range CS1>95% F12 95.00 0 NM_000505.3/ interpretable range CS1>95% F13A1 95.00 0 NM_000129.3/ interpretable range CS1>95% F13B 95.00 0 NM_001994.2/ interpretable range CS1>95% F2 95.00 0 NM_000506.3/ interpretable range CS1>95% F5 95.00 0 NM_000130.4/ interpretable range CS1>95% F7 95.00 0 NM_000131.4/ interpretable range CS1>95% F8 95.00 0 NM_000132.3/ interpretable range CS1>95% F9 95.00 0 NM_000133.3/ interpretable range CS1>95% FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95% FGA 95.00 0 NM_021871.2/ interpretable range CS1>95% FGB 95.00 0 NM_005141.4/ interpretable range CS1>95% FGG 95.00 0 NM_000509.4/ interpretable range CS1>95% FLII 95.00 0 NM_002017.4/ interpretable range CS1>95% FLNA 95.00 0 NM_001456.3/ interpretable range CS1>95% FYB1 95.00 0 NM_001465.5/ interpretable range CS1>95% GATA1 95.00 0 NM_002049.3/ interpretable range CS1>95% GDF2 95.00 0 NM_016204.3/ interpretable range CS1>95% GFI1B 95.00 0 NM_004188.5/ interpretable range CS1>95% GGCX 95.00 0 NM_000821.5/ interpretable range CS1>95% GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95% GP1BA 95.00 0 NM_000173.6/ interpretable range CS1>95% GP1BB 95.00 0 NM_000407.4/ interpretable range CS1>95% GP6 95.00 0 NM_001083899.2/ interpretable range CS1>95% GP9 95.00 0 NM_000174.4/ interpretable range CS1>95% HOXA11 95.00 0 NM_005523.5/ interpretable range CS1>95% HPS1 95.00 0 NM_000195.3/ interpretable range CS1>95% HPS3 95.00 0 NM_032383.3/ interpretable range CS1>95% HPS4 95.00 0 NM_022081.5/ interpretable range CS1>95% HPS5 95.00 0 NM_181507.1/ interpretable range CS1>95% HPS6 95.00 0 NM_024747.5/ interpretable range CS1>95% HRG 95.00 0 NM_000412.3/ interpretable range CS1>95% IKZF5 95.00 0 NM_001271840.1/ interpretable range CS1>95% ITGA2B 95.00 0 NM_000419.3/ interpretable range CS1>95% ITGB3 95.00 0 NM_000212.2/ interpretable range CS1>95% KDSR 95.00 0 NM_002035.2/ interpretable range CS1>95% KNG1 95.00 0 NM_001102416.2/ interpretable range CS1>95% LMAN1 95.00 0 NM_005570.3/ interpretable range CS1>95% LYST 95.00 0 NM_000081.3/ interpretable range CS1>95% MCFD2 95.00 0 NM_139279.5/ interpretable range CS1>95% MECOM 95.00 0 NM_001105078.3/ interpretable range CS1>95% MPIG6B 95.00 0 NM_025260.3/ interpretable range CS1>95% MPL 95.00 0 NM_005373.2/ interpretable range CS1>95% MYH9 95.00 0 NM_002473.5/ interpretable range CS1>95% NBEA 95.00 0 NM_015678.4/ interpretable range CS1>95% NBEAL2 95.00 0 NM_015175.2/ interpretable range CS1>95% P2RY12 95.00 0 NM_022788.4/ interpretable range CS1>95% PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95% PLA2G4A 95.00 0 NM_024420.2/ interpretable range CS1>95% PLAU 95.00 0 NM_002658.3/ interpretable range CS1>95% PLG 95.00 0 NM_000301.3/ interpretable range CS1>95% PROC 95.00 0 NM_000312.3/ interpretable range CS1>95% PROS1 95.00 0 NM_000313.3/ interpretable range CS1>95% PTGS1 95.00 0 NM_000962.3/ interpretable range CS1>95% RASGRP2 95.00 0 NM_153819.1/ interpretable range CS1>95% RBM8A 95.00 0 NM_005105.4/ interpretable range CS1>95% RUNX1 95.00 0 NM_001754.4/ interpretable range CS1>95% SERPINC1 95.00 0 NM_000488.3/ interpretable range CS1>95% SERPIND1 95.00 0 NM_000185.3/ interpretable range CS1>95% SERPINE1 95.00 0 NM_000602.4/ interpretable range CS1>95% SERPINF2 95.00 0 NM_000934.3/ interpretable range CS1>95% SLFN14 95.00 0 NM_001129820.1/ interpretable range CS1>95% SMAD4 95.00 0 NM_005359.5/ interpretable range CS1>95% SRC 95.00 0 NM_005417.4/ interpretable range CS1>95% STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95% STXBP2 95.00 0 NM_006949.3/ interpretable range CS1>95% TBXA2R 95.00 0 NM_001060.5/ interpretable range CS1>95% TBXAS1 95.00 0 NM_001061.4/ interpretable range CS1>95% THBD 95.00 0 NM_000361.2/ interpretable range CS1>95% THPO 95.00 0 NM_000460.3/ interpretable range CS1>95% TPM4 95.00 0 NM_001145160.1/ interpretable range CS1>95% TUBB1 95.00 0 NM_030773.3/ interpretable range CS1>95% VIPAS39 95.00 0 NM_022067.3/ interpretable range CS1>95% VKORC1 95.00 0 NM_024006.4/ interpretable range CS1>95% VPS33B 95.00 0 NM_018668.4/ interpretable range CS1>95% VWF 95.00 0 NM_000552.3/ interpretable range CS1>95% WAS 95.00 0 NM_000377.2/ interpretable range CS1>95% RAP1B 95.00 -2 NM_015646.6/ interpretable range CS1>95% -
Vascular malformations (germline) (38 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments KRIT1 100.00 1 exons 5 - 20 CCM2 100.00 1 exons 1 - 10 PDCD10 100.00 1 exons 3 - 9 RASA1 100.00 1 exons 1-25 EPHB4 100.00 1 exons 1-17 STAMBP 100.00 1 exons 3-11 PTEN 100.00 1 exons 1-9 ACVRL1 100.00 1 exons 2-10 ENG 100.00 1 exons 1-15 SMAD4 100.00 1 exons 2-12 GDF2 100.00 1 exons 1-2 TEK 100.00 1 exons 1-23 GLMN 100.00 1 exons 2-19 ANGPT2 100.00 1 exons 1-9 CCBE1 100.00 1 exons 1-11 CDC42 100.00 1 exons 2-6 FAT4 100.00 1 exons 1-17 FLT4 100.00 1 exons 1-30 FOXC2 100.00 1 exon 1 GATA2 100.00 1 exons 3-7 GJA1 100.00 1 exon 2 GJC2 100.00 1 exon 2 HGF 100.00 1 exons 1-18 HRAS 100.00 1 exons 2-5 IKBKG 100.00 1 exons 1-10 ITGA9 100.00 1 exons 1-28 KIF11 100.00 1 exons 1-22 KRAS 100.00 1 exons 1-5 NRAS 100.00 1 exons 2-5 PIEZO1 100.00 1 exons 1-51 PTPN11 100.00 1 exons 1-15 PTPN14 100.00 1 exons 2-19 RAF1 100.00 1 exons 2-17 SOS1 100.00 1 exons 1-23 SOX18 100.00 1 exons 1-2 TSC1 100.00 1 exons 3-23 TSC2 100.00 1 exons 1-42 VEGFC 100.00 1 exons 2-7 -
test-test
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments KRIT1 100.00 1 exons 5 - 20 CCM2 100.00 1 exons 1 - 10 PDCD10 100.00 1 exons 3 - 9 RASA1 100.00 1 exons 1-25 EPHB4 100.00 1 exons 1-17 STAMBP 100.00 1 exons 3-11 PTEN 100.00 1 exons 1-9 ACVRL1 100.00 1 exons 2-10 ENG 100.00 1 exons 1-15 SMAD4 100.00 1 GDF2 100.00 1 TEK 100.00 1 GLMN 100.00 1 ANGPT2 100.00 1 CCBE1 100.00 1 CDC42 100.00 1 FAT4 100.00 1 FLT4 100.00 1 FOXC2 100.00 1 GATA2 100.00 1 GJA1 100.00 1 GJC2 100.00 1 HGF 100.00 1 HRAS 100.00 1 IKBKG 100.00 1 ITGA9 100.00 1 KIF11 100.00 1 KRAS 100.00 1 NRAS 100.00 1 PIEZO1 100.00 1 PTPN11 100.00 1 PTPN14 100.00 1 RAF1 100.00 1 SOS1 100.00 1 SOX18 100.00 1 TSC1 100.00 1 TSC2 100.00 1 VEGFC 100.00 1