GP9 gene related symptoms and diseases

All the information presented here about the GP9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GP9 gene

Symptoms // Phenotype % Cases
Thrombocytopenia Very Common - Between 80% and 100% cases
Arthrogryposis multiplex congenita Very Common - Between 80% and 100% cases
Bruising susceptibility Very Common - Between 80% and 100% cases
Abnormal bleeding Very Common - Between 80% and 100% cases
Epistaxis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GP9 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Cholestasis
  • Purpura
  • Menorrhagia
  • Petechiae
  • Prolonged bleeding time
  • Abnormality of abdomen morphology
  • Lymphoproliferative disorder
  • Abnormal thrombocyte morphology

And 3 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GP9 gene

Here you will find a list of rare diseases related to the GP9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BERNARD-SOULIER SYNDROME


Alternate names

BERNARD-SOULIER SYNDROME Is also known as glycoprotein ib, platelet, deficiency of, von willebrand factor receptor deficiency, bdplt1, giant platelet syndrome, hemorrhagiparous thrombocytic dystrophy, bleeding disorder, platelet-type, 1, platelet glycoprotein ib deficiency

Description

Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.

Most common symptoms of BERNARD-SOULIER SYNDROME

  • Thrombocytopenia
  • Arthrogryposis multiplex congenita
  • Bruising susceptibility
  • Abnormal bleeding
  • Epistaxis


More info about BERNARD-SOULIER SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for GP9 gene

Thrombocytopenia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Sequencing Panel that also includes the following genes: CFB SRC TERC TERT THBD VWF WAS C3 ADAMTS13 ABCG5

More info about this panel

Thrombocytopenia Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Deletion/Duplication Panel that also includes the following genes: CFB RUNX1 SRC TERC TERT THBD VWF WAS C3 ADAMTS13

More info about this panel

Bernard Soulier Syndrome Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Bernard Soulier Syndrome that also includes the following genes: GP1BA GP1BB GP9

More info about this panel

Bernard-Soulier syndrome Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Bernard-Soulier syndrome that also includes the following genes: GP1BA GP1BB GP9

More info about this panel

GP9. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GP9 gene.

More info about this panel

Bernard-Soulier syndrome (sequence analysis of GP9 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GP9 gene.

More info about this panel

Bernard-Soulier syndrome type C Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the GP9 gene.

More info about this panel

BERNARD-SOULIER SYNDROME Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders BERNARD-SOULIER SYNDROME that also includes the following genes: GP1BA GP1BB GP9

More info about this panel

Thrombocytopenia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL CYCS ANKRD26 GATA1 GP1BA GP1BB GP9

More info about this panel

Bleeding Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3

More info about this panel

Platelet Function Disorder Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Platelet Function Disorder Sequencing Panel with CNV Detection that also includes the following genes: TBXA2R TBXAS1 GP6 HPS3 HPS4 CD36 HPS5 DTNBP1 P2RY12 HPS6

More info about this panel

Bernard-Soulier Syndrome via GP9 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GP9 gene.

More info about this panel

Thrombocytopenia Sequencing Panel with CNV Detection - Expanded Panel

United States.

By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection - Expanded that also includes the following genes: RUNX1 WAS ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1 CD36 MASTL CYCS

More info about this panel

Platelet bleeding disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Platelet bleeding disorders NGS panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1

More info about this panel

Platelet bleeding disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Platelet bleeding disorders Deletion / Duplication panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1

More info about this panel

Platelet bleeding disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Platelet bleeding disorders Comprehensive panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1

More info about this panel

Bernard-Soulier Panel Panel

United States.

By FirmaLab Bernard-Soulier Panel that also includes the following genes: GP1BA GP1BB GP9

More info about this panel

Bernard Soulier syndrome type C Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GP9 gene.

More info about this panel

Thrombocytopenia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Thrombocytopenia panel that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL GATA1 GP1BA GP1BB GP9 ITGA2B ITGB3

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Bernard Soulier Syndrome Panel

United Kingdom.

By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust Bernard Soulier Syndrome that also includes the following genes: GP1BA GP1BB GP9

More info about this panel

Thrombocytopenia Panel Panel

Germany.

By CeGaT GmbH Thrombocytopenia Panel that also includes the following genes: THBD ADAMTS13 MASTL GATA1 GP1BA GP1BB GP9 AP3B1 ITGA2B ITGB3

More info about this panel

Thrombocytopenia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Thrombocytopenia that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL CYCS ANKRD26 GATA1 GP1BA GP1BB GP9

More info about this panel

Bernard-Soulier Syndrome Sequence Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti Bernard-Soulier Syndrome Sequence Analysis that also includes the following genes: GP1BA GP1BB GP9

More info about this panel

aCGH Deletion/Duplication Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB

More info about this panel

Bernard-Soulier syndrome C Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GP9 gene.

More info about this panel

Bernard-Soulier Syndrome Type C Panel

United Kingdom.

By Regional Molecular Haemostasis Laboratory Birmingham Childrens Hospital NHS Foundation Trust

This panel specifically test the GP9 gene.

More info about this panel

Bernard-Soulier syndrome C Panel

Slovakia.

By MedGene

This panel specifically test the GP9 gene.

More info about this panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

More info about this panel

Thrombocytopenia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Thrombocytopenia NGS Panel that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL GATA1 GP1BA GP1BB GP9 MPL MYH9

More info about this panel

GP9 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GP9 gene.

More info about this panel

Thrombocytopenia Panel Panel

Finland.

By Blueprint Genetics Thrombocytopenia Panel that also includes the following genes: RUNX1 SRC THBD WAS WIPF1 ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1

More info about this panel

Platelet Function Disorder Panel Panel

Finland.

By Blueprint Genetics Platelet Function Disorder Panel that also includes the following genes: RUNX1 TBXA2R THPO WIPF1 HPS3 HPS4 HPS5 DTNBP1 P2RY12 HPS6

More info about this panel

Bleeding Disorder/Coagulopathy Panel Panel

Finland.

By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

BERNARD-SOULIER SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL BERNARD-SOULIER SYNDROME that also includes the following genes: GP1BA GP1BB GP9

More info about this panel

Bernard-Soulier Syndrome Type C , Sequencing GP9 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GP9 gene.

More info about this panel

Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes Panel

Spain.

By Reference Laboratory Genetics Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes that also includes the following genes: VWF ADAMTS13 MCFD2 F10 F11 F12 F13A1 F2 F5 F7

More info about this panel

Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes Panel

Spain.

By Reference Laboratory Genetics Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: RUNX1 SRC WAS ADAMTS13 CYCS ANKRD26 GATA1 GP1BA GP1BB GP9

More info about this panel

Bernard-Soulier Syndrome , Panel Massive Sequencing (NGS) GP9, GP1BA, GP1BB Genes Panel

Spain.

By Reference Laboratory Genetics Bernard-Soulier Syndrome , Panel Massive Sequencing (NGS) GP9, GP1BA, GP1BB Genes that also includes the following genes: GP1BA GP1BB GP9

More info about this panel

Platelet Function Related Disorders , Panel Massive Sequencing (NGS) 17 Genes Panel

Spain.

By Reference Laboratory Genetics Platelet Function Related Disorders , Panel Massive Sequencing (NGS) 17 Genes that also includes the following genes: TBXA2R GP6 HPS3 HPS4 HPS5 DTNBP1 P2RY12 HPS6 BLOC1S3 ANO6

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel


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