TUBB1 gene related symptoms and diseases
All the information presented here about the TUBB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TUBB1 gene
Symptoms // Phenotype | % Cases |
---|---|
Thrombocytopenia | Uncommon - Between 30% and 50% cases |
Macrothrombocytopenia | Uncommon - Between 30% and 50% cases |
Increased mean platelet volume | Uncommon - Between 30% and 50% cases |
Giant platelets | Uncommon - Between 30% and 50% cases |
Rare diseases associated to TUBB1 gene
Here you will find a list of rare diseases related to the TUBB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
Most common symptoms of MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
- Thrombocytopenia
- Macrothrombocytopenia
- Increased mean platelet volume
- Giant platelets
More info about MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
AUTOSOMAL DOMINANT MACROTHROMBOCYTOPENIA
Description
This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.
More info about AUTOSOMAL DOMINANT MACROTHROMBOCYTOPENIA
SOURCES: ORPHANET
Search interest in TUBB1
Potential gene panels for TUBB1 gene
Thrombocytopenia Sequencing Panel Panel
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 panelThrombocytopenia Deletion/Duplication Panel Panel
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 panelBleeding Disorders Sequencing Panel with CNV Detection Panel
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 panelThrombocytopenia Sequencing Panel with CNV Detection - Expanded Panel
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 panelThrombocytopenia NGS Panel Panel
By Connective Tissue Gene Tests Thrombocytopenia NGS Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST
More info about this panelThrombocytopenia Deletion / Duplication Panel Panel
By Connective Tissue Gene Tests Thrombocytopenia Deletion / Duplication Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST
More info about this panelThrombocytopenia Comprehensive Panel Panel
By Connective Tissue Gene Tests Thrombocytopenia Comprehensive Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST
More info about this panelTUBB1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TUBB1 gene.
More info about this panelThrombocytopenia Panel Panel
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 panelBleeding Disorder/Coagulopathy Panel Panel
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 panelComprehensive Hematology Panel Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DIABLO GAS1 NUP155 COQ8A TMPRSS3 NUBPL DMRT2