RPS26 gene related symptoms and diseases
All the information presented here about the RPS26 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RPS26 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Micrognathia | Very Common - Between 80% and 100% cases |
| Anemia | Very Common - Between 80% and 100% cases |
| Cleft palate | Very Common - Between 80% and 100% cases |
| Macrocytic anemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RPS26 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hearing impairment
- Increased mean corpuscular volume
- Cleft soft palate
- Growth delay
- Broad neck
- Respiratory distress
- Malar flattening
- Midface retrusion
And 65 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RPS26 gene
Here you will find a list of rare diseases related to the RPS26. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BLACKFAN-DIAMOND ANEMIA
Alternate names
BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type, congenital pure red cell aplasia, aase-smith syndrome ii, congenital prca, aase-smith ii syndrome, aase syndrome
Description
Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.
Most common symptoms of BLACKFAN-DIAMOND ANEMIA
- Short stature
- Growth delay
- Hypertelorism
- Neoplasm
- Failure to thrive
More info about BLACKFAN-DIAMOND ANEMIA
DIAMOND-BLACKFAN ANEMIA 10; DBA10
Description
Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).
Most common symptoms of DIAMOND-BLACKFAN ANEMIA 10; DBA10
- Short stature
- Hearing impairment
- Growth delay
- Failure to thrive
- Micrognathia
More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15
Most common symptoms of DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Micrognathia
More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15
SOURCES: OMIM
Search interest in RPS26
Potential gene panels for RPS26 gene
Non-immune Hydrops Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B
More info about this panel United States.
Bone Marrow Failure Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Bone Marrow Failure that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS15 RPS19 RPS24 RPS26 RPS27A RPS7
More info about this panel United States.
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.
RPS26 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 RPS26 gene.
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.
RPS26 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 RPS26 gene.
More info about this panel United States.
Diamond-Blackfan anemia 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 Diamond-Blackfan anemia panel by next-generation sequencing (NGS) that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel United States.
Diamond-Blackfan Anemia Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Diamond-Blackfan Anemia Deletion/Duplication Panel that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7 GATA1
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.
Diamond-Blackfan Anemia Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Diamond-Blackfan Anemia 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.
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.
Diamond-Blackfan Anemia Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Diamond-Blackfan Anemia that also includes the following genes: RPL35A RPL5 RPS11 RPS17 RPS19 RPS26
More info about this panel United Kingdom.
DBANext Panel
United States.
By Ambry Genetics DBANext that also includes the following genes: RPL11 RPL19 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel United States.
RPS26. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the RPS26 gene.
More info about this panel Spain.
Diamond-Blackfan anemia 10 (sequence analysis of RPS26 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RPS26 gene.
More info about this panel Portugal.
Diamond-Blackfan anemia (NGS panel of 18 genes) Panel
Portugal.
By CGC Genetics Diamond-Blackfan anemia (NGS panel of 18 genes) that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel Portugal.
Diamond-Blackfan anemia (NGS panel of 18 genes) Panel
Portugal.
By CGC Genetics Diamond-Blackfan anemia (NGS panel of 18 genes) that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel Portugal.
Diamond-Blackfan Anemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Diamond-Blackfan Anemia Sequencing Panel with CNV Detection that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel United States.
Diamond-Blackfan Anemia and Bone Marrow Failure via RPS26 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the RPS26 gene.
More info about this panel United States.
Diamond-Blackfan anemia NGS panel Panel
United States.
By Connective Tissue Gene Tests Diamond-Blackfan anemia NGS panel that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel United States.
Diamond-Blackfan anemia Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Diamond-Blackfan anemia Deletion / Duplication panel that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel United States.
Diamond-Blackfan anemia Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Diamond-Blackfan anemia Comprehensive panel that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel United States.
Diamond-Blackfan anemia 10 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RPS26 gene.
More info about this panel Germany.
Erythrocytes, Anemia Panel Panel
Germany.
By CeGaT GmbH Erythrocytes, Anemia Panel that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7 SEC23B
More info about this panel Germany.
NGS Panel for Diamond-Blackfan Anemia Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Diamond-Blackfan Anemia that also includes the following genes: RPL11 RPL15 RPL19 RPL26 RPL27 RPL31 RPL35A RPL5 RPL9 RPS10
More info about this panel Spain.
Invitae Diamond-Blackfan Anemia Panel Panel
United States.
By Invitae Invitae Diamond-Blackfan Anemia Panel that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7 GATA1
More info about this panel United States.
Invitae Bone Marrow Failure Syndromes Panel Panel
United States.
By Invitae Invitae Bone Marrow Failure Syndromes Panel that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7 RUNX1
More info about this panel United States.
Diamond Blackfan Anemia:RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17 and RPS7 genes sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Diamond Blackfan Anemia:RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17 and RPS7 genes sequence analysis that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS24 RPS26 RPS7
More info about this panel Spain.
BLACKFAN-DIAMON, ANEMIA Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases BLACKFAN-DIAMON, ANEMIA that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7
More info about this panel Spain.
RPS26 - Gene sequencing Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the RPS26 gene.
More info about this panel Netherlands.
Blackfan-Diamond anemia - Sequencing Panel Panel
Netherlands.
By Genome Diagnostics VU University Medical Center Blackfan-Diamond anemia - Sequencing Panel that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7
More info about this panel Netherlands.
Diamond-Blackfan Anemia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Diamond-Blackfan Anemia NGS Panel that also includes the following genes: RPL11 RPL19 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel United States.
RPS26 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RPS26 gene.
More info about this panel United States.
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.
Diamond-Blackfan Anemia Panel Panel
Finland.
By Blueprint Genetics Diamond-Blackfan Anemia Panel that also includes the following genes: RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29 RPS7
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.
Anemia Panel Panel
Finland.
By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
Diamond-Blackfan anemia 10 Panel
Spain.
By Bioarray
This panel specifically test the RPS26 gene.
More info about this panel Spain.
Inherited Bone Marrow Failure Panel Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel United States.
BLACKFAN-DIAMOND ANEMIA Panel
Spain.
By Laboratorio de Genetica Clinica SL BLACKFAN-DIAMOND ANEMIA that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7
More info about this panel Spain.
BLACKFAN-DIAMOND ANEMIA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL BLACKFAN-DIAMOND ANEMIA: NGS PANEL that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel Spain.
Diamond-Blackfan Anemia, Sequencing RPS26 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the RPS26 gene.
More info about this panel Spain.
Diamond-Blackfan Anemia, Panel Deletions-Duplications (MLPA) RPL35A, RPS17, RPL11, RPL5, RPS26, RPS19 Genes Panel
Spain.
By Reference Laboratory Genetics Diamond-Blackfan Anemia, Panel Deletions-Duplications (MLPA) RPL35A, RPS17, RPL11, RPL5, RPS26, RPS19 Genes that also includes the following genes: RPL11 RPL35A RPL5 RPS17 RPS19 RPS26
More info about this panel Spain.
Diamond-Blackfan Anemia, Sequencing RPL5,RPS10,RPL11,RPL35A,RPS26,RPS24,RPS17,RPS7 Genes Panel
Spain.
By Reference Laboratory Genetics Diamond-Blackfan Anemia, Sequencing RPL5,RPS10,RPL11,RPL35A,RPS26,RPS24,RPS17,RPS7 Genes that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS24 RPS26 RPS7
More info about this panel Spain.
Diamond-Blackfan Anemia, Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Diamond-Blackfan Anemia, Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7
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.
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