RBM8A gene related symptoms and diseases
All the information presented here about the RBM8A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RBM8A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Scoliosis | Very Common - Between 80% and 100% cases |
| Adducted thumb | Very Common - Between 80% and 100% cases |
| Micrognathia | Very Common - Between 80% and 100% cases |
| Tibial torsion | Very Common - Between 80% and 100% cases |
| Nevus flammeus of the forehead | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RBM8A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Aplasia/hypoplasia of the humerus
- Aplasia/Hypoplasia of the ulna
- Cervical ribs
- Phocomelia
- Fibular aplasia
- Aplasia of the uterus
- Fused cervical vertebrae
- Patellar dislocation
And 94 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RBM8A gene
Here you will find a list of rare diseases related to the RBM8A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Alternate names
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME Is also known as tar syndrome
Description
Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.
Most common symptoms of THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
- Scoliosis
- Micrognathia
- Sensorineural hearing impairment
- Cleft palate
- Thrombocytopenia
More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
SOURCES: ORPHANET
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR
Alternate names
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome, chromosome 1q21.1 deletion syndrome, 200-kb
Description
The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).
Most common symptoms of THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR
Search interest in RBM8A
Potential gene panels for RBM8A gene
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24
More info about this panel United States.
Bone Marrow Failure Syndromes Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Deletion/Duplication Panel that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
RBM8A Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the RBM8A gene.
More info about this panel United States.
RBM8A Deletion/Duplication Analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the RBM8A gene.
More info about this panel United States.
Inherited Bone Marrow Failure Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
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 United States.
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 United States.
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
Thrombocytopenia-absent radius syndrome (TAR, sequence analysis of RBM8A gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RBM8A gene.
More info about this panel Portugal.
Congenital Limb Malformation Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15
More info about this panel United States.
Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A Gene Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the RBM8A gene.
More info about this panel United States.
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 United States.
Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A 1q21.1 Deletion Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the RBM8A gene.
More info about this panel United States.
Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A Gene - Sequencing and 1q21.1 Deletion Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the RBM8A gene.
More info about this panel United States.
Thrombocytopenia NGS Panel Panel
United States.
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 panel United States.
Thrombocytopenia Deletion / Duplication Panel Panel
United States.
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 panel United States.
Thrombocytopenia Comprehensive Panel Panel
United States.
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 panel United States.
Thrombocytopenia and absent radius syndrome Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the RBM8A gene.
More info about this panel United States.
Thrombocytopenia and absent radius syndrome Sequencing test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the RBM8A gene.
More info about this panel United States.
Thrombocytopenia and absent radius syndrome Comprehensive test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the RBM8A gene.
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Thromocytopenia-Absent-Radius-Syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RBM8A gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
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 United States.
Invitae Thrombocytopenia-Absent Radius Syndrome Test Panel
United States.
By Invitae
This panel specifically test the RBM8A gene.
More info about this panel United States.
TAR Syndrome: RBM8A Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the RBM8A gene.
More info about this panel United States.
TAR Syndrome Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the RBM8A gene.
More info about this panel United States.
RBM8A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RBM8A gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
Bone Marrow Failure Syndrome Panel Panel
Finland.
By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
Limb Malformations Panel Panel
Finland.
By Blueprint Genetics Limb Malformations Panel that also includes the following genes: SALL1 SF3B4 BRCA2 SMC1A TBX3 TBX5 WNT7A XRCC2 HDAC8 NSDHL
More info about this panel Finland.
TAR SYNDROME (THROMBOCYTOPENIA - ABSENT RADIUS) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the RBM8A gene.
More info about this panel Spain.
TAR Syndrome , Sequencing RBM8A Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the RBM8A gene.
More info about this panel Spain.
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Panel
Spain.
By Reference Laboratory Genetics Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel Spain.
Thrombocytopenia Absent Radius Syndrome: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the RBM8A gene.
More info about this panel Canada.
Thrombocytopenia Absent Radius Syndrome: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the RBM8A gene.
More info about this panel Canada.
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