C15orf41 gene related symptoms and diseases
All the information presented here about the C15orf41 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to C15orf41 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Short phalanx of finger | Very Common - Between 80% and 100% cases |
| Congenital hypoplastic anemia | Very Common - Between 80% and 100% cases |
| Increased total bilirubin | Very Common - Between 80% and 100% cases |
| Poikilocytosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with C15orf41 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Anemia of inadequate production
- Anisocytosis
- Reticulocytosis
- Macrocytic anemia
- Cutaneous syndactyly
- Small nail
- Ptosis
- Pallor
And 8 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to C15orf41 gene
Here you will find a list of rare diseases related to the C15orf41. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I
Alternate names
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I Is also known as cda type i, cda, type ib, cda type 1, congenital dyserythropoietic anemia type 1, cda i
Description
Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.
Most common symptoms of CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I
- Short stature
- Ptosis
- Anemia
- Hepatomegaly
- Abnormality of the skeletal system
More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I
Search interest in C15orf41
Potential gene panels for C15orf41 gene
Hemolytic 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 Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8
More info about this panel United States.
Congenital Dyserythropoietic 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 Congenital Dyserythropoietic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: SEC23B LPIN2 CDAN1 C15orf41 ALAS2 GATA1 KLF1 KIF23
More info about this panel United States.
C15orf41 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 C15orf41 gene.
More info about this panel United States.
C15orf41 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 C15orf41 gene.
More info about this panel United States.
Congenital Dyserythropoietic 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 Congenital Dyserythropoietic Anemia Deletion/Duplication Panel that also includes the following genes: SEC23B LPIN2 CDAN1 C15orf41 GATA1 KLF1 KIF23
More info about this panel United States.
Hemolytic 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 Hemolytic Anemia Deletion/Duplication Panel that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ABCG5 ABCG8 LPIN2
More info about this panel United States.
Dyserythropoietic anemia, congenital type Ib (sequence analysis of C15orf41 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the C15orf41 gene.
More info about this panel Portugal.
Congenital Dyserythropoietic Anemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Dyserythropoietic Anemia Sequencing Panel with CNV Detection that also includes the following genes: SEC23B CDAN1 C15orf41 GATA1 KLF1
More info about this panel United States.
Congenital Dyserythropoietic Anemia Type I via C15orf41 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the C15orf41 gene.
More info about this panel United States.
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.
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 Congenital Dyserythropoietic Anemia Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Congenital Dyserythropoietic Anemia that also includes the following genes: SEC23B CDAN1 C15orf41 GATA1 KLF1 KIF23
More info about this panel Spain.
Congenital Dyserythropoietic Anemia type 1b Panel
Spain.
By BLOODGENETICS BLOODGENETICS
This panel specifically test the C15orf41 gene.
More info about this panel Spain.
Dyserythropoietic anemia, congenital Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Dyserythropoietic anemia, congenital that also includes the following genes: SEC23B CDAN1 C15orf41 KLF1
More info about this panel Spain.
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel
United States.
By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies that also includes the following genes: RHAG RPS19 SEC23B SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK CD59
More info about this panel United States.
C15orf41 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the C15orf41 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.
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.
CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE 1 Panel
Spain.
By Laboratorio de Genetica Clinica SL CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE 1 that also includes the following genes: CDAN1 C15orf41
More info about this panel Spain.
CONGENITAL DYSERYTHROPOIETIC ANEMIA, NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CONGENITAL DYSERYTHROPOIETIC ANEMIA, NGS PANEL that also includes the following genes: SEC23B CDAN1 C15orf41 GATA1 KLF1 KIF23
More info about this panel Spain.
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